AQTLTrait:1085 Degree of Spotting CL:0000540PHENOTYPE neuron phenotype CL:0000573PHENOTYPE retinal cone cell phenotype CL:0001035PHENOTYPE bone cell phenotype GO:0001527PHENOTYPE microfibril phenotype GO:0006909PHENOTYPE phagocytosis phenotype GO:0007610PHENOTYPE behavior phenotype GO:0030163PHENOTYPE protein catabolic process phenotype GO:0042383PHENOTYPE sarcolemma phenotype GO:0042713PHENOTYPE sperm ejaculation phenotype GO:0045321PHENOTYPE leukocyte activation phenotype GO:0050890PHENOTYPE cognition phenotype GO:0060004PHENOTYPE reflex phenotype GO:0070075PHENOTYPE tear secretion phenotype HP:0000002 Abnormality of body height HP:0000003 Multicystic kidney dysplasia HP:0000008 Abnormality of female internal genitalia HP:0000009 Functional abnormality of the bladder HP:0000010 Recurrent urinary tract infections HP:0000011 Neurogenic bladder HP:0000012 Urinary urgency HP:0000013 Hypoplasia of the uterus HP:0000014 Abnormality of the bladder HP:0000015 Bladder diverticulum HP:0000016 Urinary retention HP:0000017 Nocturia HP:0000019 Urinary hesitancy HP:0000020 Urinary incontinence HP:0000021 Megacystis HP:0000022 Abnormality of male internal genitalia HP:0000023 Inguinal hernia HP:0000024 Prostatitis HP:0000025 Functional abnormality of male internal genitalia HP:0000026 Male hypogonadism HP:0000027 Azoospermia HP:0000028 Cryptorchidism HP:0000029 Testicular atrophy HP:0000030 Testicular gonadoblastoma HP:0000031 Epididymitis HP:0000032 Abnormality of male external genitalia HP:0000033 Ambiguous genitalia, male HP:0000034 Hydrocele testis HP:0000035 Abnormality of the testis HP:0000036 Abnormality of the penis HP:0000037 Male pseudohermaphroditism HP:0000039 Epispadias HP:0000040 Long penis HP:0000041 Chordee HP:0000042 Absent external genitalia HP:0000044 Hypogonadotrophic hypogonadism HP:0000045 Abnormality of the scrotum HP:0000046 Scrotal hypoplasia HP:0000047 Hypospadias HP:0000048 Bifid scrotum HP:0000049 Shawl scrotum HP:0000050 Hypoplastic male external genitalia HP:0000051 Perineal hypospadias HP:0000052 Urethral atresia, male HP:0000053 Macroorchidism HP:0000054 Micropenis HP:0000055 Abnormality of female external genitalia HP:0000056 Abnormality of the clitoris HP:0000058 Abnormality of the labia HP:0000059 Hypoplastic labia majora HP:0000060 Clitoral hypoplasia HP:0000061 Ambiguous genitalia, female HP:0000062 Ambiguous genitalia HP:0000063 Fused labia minora HP:0000064 Hypoplastic labia minora HP:0000065 Labial hypertrophy HP:0000066 Labial hypoplasia HP:0000067 Urethral atresia, female HP:0000068 Urethral atresia HP:0000069 Abnormality of the ureter HP:0000070 Ureterocele HP:0000071 Ureteral stenosis HP:0000072 Hydroureter HP:0000073 Ureteral duplication HP:0000074 Ureteropelvic junction obstruction HP:0000075 Renal duplication HP:0000076 Vesicoureteral reflux HP:0000077 Abnormality of the kidney HP:0000078 Abnormality of the genital system HP:0000079 Abnormality of the urinary system HP:0000081 Duplicated collecting system HP:0000083 Renal insufficiency HP:0000085 Horseshoe kidney HP:0000086 Ectopic kidney HP:0000089 Renal hypoplasia HP:0000090 Nephronophthisis HP:0000091 Abnormality of the renal tubule HP:0000092 Tubular atrophy HP:0000093 Proteinuria HP:0000096 Glomerulosclerosis HP:0000097 Focal segmental glomerulosclerosis HP:0000098 Tall stature HP:0000099 Glomerulonephritis HP:0000100 Nephrotic syndrome HP:0000103 Polyuria HP:0000104 Renal agenesis HP:0000105 Enlarged kidney HP:0000107 Renal cyst HP:0000108 Renal corticomedullary cysts HP:0000110 Renal dysplasia HP:0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia HP:0000112 Nephropathy HP:0000114 Proximal tubulopathy HP:0000117 Renal phosphate wasting HP:0000119 Abnormality of the genitourinary system HP:0000121 Nephrocalcinosis HP:0000122 Unilateral renal agenesis HP:0000123 Nephritis HP:0000124 Renal tubular dysfunction HP:0000125 Pelvic kidney HP:0000126 Hydronephrosis HP:0000127 Renal salt wasting HP:0000128 Renal potassium wasting HP:0000130 Abnormality of the uterus HP:0000131 Uterine leiomyoma HP:0000132 Menorrhagia HP:0000133 Gonadal dysgenesis HP:0000134 Female hypogonadism HP:0000135 Hypogonadism HP:0000136 Bifid uterus HP:0000137 Abnormality of the ovary HP:0000138 Ovarian cyst HP:0000139 Uterine prolapse HP:0000140 Abnormality of the menstrual cycle HP:0000141 Amenorrhea HP:0000142 Abnormality of the vagina HP:0000143 Rectovaginal fistula HP:0000144 Decreased fertility HP:0000145 Transverse vaginal septum HP:0000147 Polycystic ovaries HP:0000148 Vaginal atresia HP:0000149 Ovarian gonadoblastoma HP:0000150 Gonadoblastoma HP:0000151 Aplasia of the uterus HP:0000153 Abnormality of the mouth HP:0000154 Wide mouth HP:0000155 Oral ulcer HP:0000157 Abnormality of the tongue HP:0000158 Macroglossia HP:0000159 Abnormality of the lip HP:0000160 Narrow mouth HP:0000161 Median cleft lip HP:0000162 Glossoptosis HP:0000163 Abnormality of the oral cavity HP:0000164 Abnormality of the dentition HP:0000166 Severe periodontitis HP:0000168 Abnormality of the gingiva HP:0000169 Gingival fibromatosis HP:0000171 Microglossia HP:0000174 Abnormality of the palate HP:0000175 Cleft palate HP:0000176 Submucous cleft hard palate HP:0000177 Abnormality of upper lip HP:0000178 Abnormality of lower lip HP:0000179 Thick lower lip vermilion HP:0000180 Lobulated tongue HP:0000182 Movement abnormality of the tongue HP:0000183 Difficulty in tongue movements HP:0000185 Cleft soft palate HP:0000187 Broad alveolar ridges HP:0000188 Short upper lip HP:0000189 Narrow palate HP:0000190 Abnormality of oral frenula HP:0000191 Accessory oral frenulum HP:0000193 Bifid uvula HP:0000194 Open mouth HP:0000196 Lower lip pit HP:0000197 Abnormality of parotid gland HP:0000198 Absence of Stensen duct HP:0000199 Tongue nodules HP:0000200 Short lingual frenulum HP:0000201 Pierre-Robin sequence HP:0000202 Oral cleft HP:0000204 Cleft upper lip HP:0000205 Pursed lips HP:0000206 Glossitis HP:0000207 Triangular mouth HP:0000211 Trismus HP:0000212 Gingival overgrowth HP:0000214 Lip telangiectasia HP:0000215 Thick upper lip vermilion HP:0000216 Broad secondary alveolar ridge HP:0000217 Xerostomia HP:0000218 High palate HP:0000219 Thin upper lip vermilion HP:0000220 Velopharyngeal insufficiency HP:0000221 Furrowed tongue HP:0000222 Gingival hyperkeratosis HP:0000224 Decreased taste sensation HP:0000225 Gingival bleeding HP:0000227 Tongue telangiectasia HP:0000230 Gingivitis HP:0000232 Everted lower lip vermilion HP:0000233 Thin vermilion border HP:0000234 Abnormality of the head HP:0000235 Abnormality of the fontanelles or cranial sutures HP:0000237 Small anterior fontanelle HP:0000238 Hydrocephalus HP:0000239 Large fontanelles HP:0000240 Abnormality of skull size HP:0000242 Parietal bossing HP:0000243 Trigonocephaly HP:0000244 Brachyturricephaly HP:0000245 Abnormality of the paranasal sinuses HP:0000246 Sinusitis HP:0000248 Brachycephaly HP:0000250 Dense calvaria HP:0000252 Microcephaly HP:0000253 Progressive microcephaly HP:0000255 Acute sinusitis HP:0000256 Macrocephaly HP:0000260 Wide anterior fontanel HP:0000262 Turricephaly HP:0000263 Oxycephaly HP:0000264 Abnormality of the mastoid HP:0000265 Mastoiditis HP:0000267 Cranial asymmetry HP:0000268 Dolichocephaly HP:0000269 Prominent occiput HP:0000270 Delayed cranial suture closure HP:0000271 Abnormality of the face HP:0000272 Malar flattening HP:0000273 Facial grimacing HP:0000274 Small face HP:0000275 Narrow face HP:0000276 Long face HP:0000277 Abnormality of the mandible HP:0000278 Retrognathia HP:0000280 Coarse facial features HP:0000282 Facial edema HP:0000283 Broad face HP:0000286 Epicanthus HP:0000287 Increased facial adipose tissue HP:0000288 Abnormality of the philtrum HP:0000289 Broad philtrum HP:0000290 Abnormality of the forehead HP:0000292 Loss of facial adipose tissue HP:0000293 Full cheeks HP:0000294 Low anterior hairline HP:0000295 Doll-like facies HP:0000297 Facial hypotonia HP:0000298 Mask-like facies HP:0000300 Oval face HP:0000303 Mandibular prognathia HP:0000307 Pointed chin HP:0000308 Microretrognathia HP:0000309 Abnormality of the midface HP:0000311 Round face HP:0000315 Abnormality of the orbital region HP:0000316 Hypertelorism HP:0000317 Facial myokymia HP:0000319 Smooth philtrum HP:0000320 Bird-like facies HP:0000321 Square face HP:0000322 Short philtrum HP:0000324 Facial asymmetry HP:0000325 Triangular face HP:0000326 Abnormality of the maxilla HP:0000327 Hypoplasia of the maxilla HP:0000329 Facial hemangioma HP:0000331 Short chin HP:0000336 Prominent supraorbital ridges HP:0000337 Broad forehead HP:0000338 Hypomimic face HP:0000339 Pugilistic facies HP:0000340 Sloping forehead HP:0000341 Narrow forehead HP:0000343 Long philtrum HP:0000346 Whistling appearance HP:0000347 Micrognathia HP:0000348 High forehead HP:0000349 Widow's peak HP:0000350 Small forehead HP:0000356 Abnormality of the outer ear HP:0000357 Abnormal location of ears HP:0000358 Posteriorly rotated ears HP:0000359 Abnormality of the inner ear HP:0000360 Tinnitus HP:0000362 Otosclerosis HP:0000363 Abnormality of earlobe HP:0000364 Hearing abnormality HP:0000365 Hearing impairment HP:0000366 Abnormality of the nose HP:0000368 Low-set, posteriorly rotated ears HP:0000369 Low-set ears HP:0000370 Abnormality of the middle ear HP:0000371 Acute otitis media HP:0000372 Abnormality of the auditory canal HP:0000375 Abnormality of cochlea HP:0000376 Incomplete partition of the cochlea type II HP:0000377 Abnormality of the pinna HP:0000378 Cupped ear HP:0000381 Stapes ankylosis HP:0000383 Abnormality of periauricular region HP:0000384 Preauricular skin tag HP:0000385 Small earlobe HP:0000387 Absent earlobe HP:0000388 Otitis media HP:0000389 Chronic otitis media HP:0000391 Thickened helices HP:0000394 Lop ear HP:0000395 Prominent antihelix HP:0000396 Overfolded helix HP:0000399 Prelingual sensorineural hearing impairment HP:0000400 Macrotia HP:0000402 Stenosis of the external auditory canal HP:0000403 Recurrent otitis media HP:0000405 Conductive hearing impairment HP:0000407 Sensorineural hearing impairment HP:0000408 Progressive sensorineural hearing impairment HP:0000410 Mixed hearing impairment HP:0000411 Protruding ear HP:0000413 Atresia of the external auditory canal HP:0000414 Bulbous nose HP:0000417 Slender nose HP:0000418 Narrow nasal ridge HP:0000419 Abnormality of the nasal septum HP:0000420 Short nasal septum HP:0000421 Epistaxis HP:0000422 Abnormality of the nasal bridge HP:0000426 Prominent nasal bridge HP:0000430 Underdeveloped nasal alae HP:0000431 Wide nasal bridge HP:0000433 Abnormality of the nasal mucosa HP:0000434 Nasal mucosa telangiectasia HP:0000437 Depressed nasal tip HP:0000444 Convex nasal ridge HP:0000445 Wide nose HP:0000446 Narrow nasal bridge HP:0000447 Pear-shaped nose HP:0000448 Prominent nose HP:0000451 Triangular nasal tip HP:0000452 Choanal stenosis HP:0000453 Choanal atresia HP:0000454 Flared nostrils HP:0000455 Broad nasal tip HP:0000456 Bifid nasal tip HP:0000457 Depressed nasal ridge HP:0000458 Anosmia HP:0000460 Narrow nose HP:0000463 Anteverted nares HP:0000464 Abnormality of the neck HP:0000465 Webbed neck HP:0000466 Limited neck range of motion HP:0000467 Neck muscle weakness HP:0000468 Increased adipose tissue around the neck HP:0000470 Short neck HP:0000471 Gastrointestinal angiodysplasia HP:0000472 Long neck HP:0000473 Torticollis HP:0000474 Thickened nuchal skin fold HP:0000475 Broad neck HP:0000476 Cystic hygroma HP:0000478 Abnormality of the eye HP:0000479 Abnormality of the retina HP:0000480 Retinal coloboma HP:0000481 Abnormality of the cornea HP:0000482 Microcornea HP:0000483 Astigmatism HP:0000484 Hyperopic astigmatism HP:0000485 Megalocornea HP:0000486 Strabismus HP:0000487 Congenital strabismus HP:0000488 Retinopathy HP:0000490 Deeply set eye HP:0000491 Keratitis HP:0000492 Abnormality of the eyelid HP:0000493 Abnormality of the fovea HP:0000494 Downslanted palpebral fissures HP:0000495 Recurrent corneal erosions HP:0000496 Abnormality of eye movement HP:0000498 Blepharitis HP:0000499 Abnormality of the eyelashes HP:0000501 Glaucoma HP:0000502 Abnormality of the conjunctiva HP:0000503 Tortuosity of conjunctival vessels HP:0000504 Abnormality of vision HP:0000505 Visual impairment HP:0000506 Telecanthus HP:0000508 Ptosis HP:0000509 Conjunctivitis HP:0000510 Rod-cone dystrophy HP:0000511 Vertical supranuclear gaze palsy HP:0000512 Abnormal electroretinogram HP:0000514 Slow saccadic eye movements HP:0000517 Abnormality of the lens HP:0000518 Cataract HP:0000519 Congenital cataract HP:0000520 Proptosis HP:0000522 Alacrima HP:0000523 Subcapsular cataract HP:0000524 Conjunctival telangiectasia HP:0000525 Abnormality of the iris HP:0000526 Aniridia HP:0000527 Long eyelashes HP:0000528 Anophthalmia HP:0000529 Progressive visual loss HP:0000531 Corneal crystals HP:0000533 Chorioretinal atrophy HP:0000534 Abnormality of the eyebrow HP:0000535 Sparse and thin eyebrow HP:0000537 Epicanthus inversus HP:0000538 Pseudopapilledema HP:0000539 Abnormality of refraction HP:0000540 Hypermetropia HP:0000541 Retinal detachment HP:0000542 Impaired ocular adduction HP:0000543 Optic disc pallor HP:0000544 External ophthalmoplegia HP:0000545 Myopia HP:0000546 Retinal degeneration HP:0000547 Tapetoretinal degeneration HP:0000548 Cone/cone-rod dystrophy HP:0000549 Abnormal conjugate eye movement HP:0000550 Undetectable electroretinogram HP:0000551 Abnormality of color vision HP:0000552 Tritanomaly HP:0000554 Uveitis HP:0000555 Leukocoria HP:0000556 Retinal dystrophy HP:0000557 Buphthalmos HP:0000558 Rieger anomaly HP:0000559 Corneal scarring HP:0000561 Absent eyelashes HP:0000563 Keratoconus HP:0000564 Lacrimal duct atresia HP:0000565 Esotropia HP:0000567 Chorioretinal coloboma HP:0000568 Microphthalmia HP:0000570 Abnormality of saccadic eye movements HP:0000571 Hypometric saccades HP:0000572 Visual loss HP:0000573 Retinal hemorrhage HP:0000574 Thick eyebrow HP:0000575 Scotoma HP:0000576 Centrocecal scotoma HP:0000577 Exotropia HP:0000579 Nasolacrimal duct obstruction HP:0000580 Pigmentary retinopathy HP:0000581 Blepharophimosis HP:0000582 Upslanted palpebral fissure HP:0000584 Punctate corneal epithelial erosions HP:0000585 Band keratopathy HP:0000586 Shallow orbits HP:0000587 Abnormality of the optic nerve HP:0000588 Optic nerve coloboma HP:0000589 Coloboma HP:0000590 Progressive external ophthalmoplegia HP:0000591 Abnormality of the sclera HP:0000592 Blue sclerae HP:0000593 Abnormality of the anterior chamber HP:0000594 Shallow anterior chamber HP:0000597 Ophthalmoparesis HP:0000598 Abnormality of the ear HP:0000600 Abnormality of the pharynx HP:0000601 Hypotelorism HP:0000602 Ophthalmoplegia HP:0000603 Central scotoma HP:0000605 Supranuclear gaze palsy HP:0000607 Periorbital wrinkles HP:0000608 Macular degeneration HP:0000609 Optic nerve hypoplasia HP:0000612 Iris coloboma HP:0000613 Photophobia HP:0000614 Abnormality of the nasolacrimal system HP:0000615 Abnormality of the pupil HP:0000616 Miosis HP:0000617 Abnormality of ocular smooth pursuit HP:0000618 Blindness HP:0000619 Impaired convergence HP:0000620 Dacryocystitis HP:0000621 Entropion HP:0000622 Blurred vision HP:0000623 Supranuclear ophthalmoplegia HP:0000625 Cleft eyelid HP:0000627 Posterior embryotoxon HP:0000629 Periorbital fullness HP:0000630 Abnormality of retinal arteries HP:0000632 Lacrimation abnormality HP:0000633 Decreased lacrimation HP:0000634 Impaired ocular abduction HP:0000635 Blue irides HP:0000636 Upper eyelid coloboma HP:0000637 Long palpebral fissure HP:0000639 Nystagmus HP:0000640 Gaze-evoked nystagmus HP:0000641 Dysmetric saccades HP:0000642 Red-green dyschromatopsia HP:0000643 Blepharospasm HP:0000646 Amblyopia HP:0000647 Sclerocornea HP:0000648 Optic atrophy HP:0000649 Abnormality of visual evoked potentials HP:0000650 Abnormal amplitude of pattern reversal visual evoked potentials HP:0000651 Diplopia HP:0000652 Lower eyelid coloboma HP:0000653 Sparse eyelashes HP:0000654 Decreased light- and dark-adapted electroretinogram amplitude HP:0000655 Vitreoretinal degeneration HP:0000656 Ectropion HP:0000657 Oculomotor apraxia HP:0000658 Eyelid apraxia HP:0000659 Peters anomaly HP:0000660 Lipemia retinalis HP:0000661 Palpebral fissure narrowing on adduction HP:0000662 Nyctalopia HP:0000664 Synophrys HP:0000666 Horizontal nystagmus HP:0000667 Phthisis bulbi HP:0000668 Hypodontia HP:0000670 Carious teeth HP:0000674 Anodontia HP:0000675 Macrodontia of permanent maxillary central incisor HP:0000676 Abnormality of the incisor HP:0000677 Oligodontia HP:0000678 Dental crowding HP:0000679 Taurodontia HP:0000680 Delayed eruption of primary teeth HP:0000682 Abnormality of dental enamel HP:0000683 Grayish enamel HP:0000684 Delayed eruption of teeth HP:0000685 Hypoplasia of teeth HP:0000687 Widely spaced teeth HP:0000689 Dental malocclusion HP:0000690 Agenesis of maxillary lateral incisor HP:0000691 Microdontia HP:0000692 Misalignment of teeth HP:0000694 Shell teeth HP:0000695 Natal tooth HP:0000696 Delayed eruption of permanent teeth HP:0000698 Conical tooth HP:0000699 Diastema HP:0000700 Periapical bone loss HP:0000703 Dentinogenesis imperfecta HP:0000704 Periodontitis HP:0000705 Amelogenesis imperfecta HP:0000706 Unerupted tooth HP:0000707 Abnormality of the nervous system HP:0000708 Behavioral abnormality HP:0000709 Psychosis HP:0000710 Hyperorality HP:0000711 Restlessness HP:0000712 Emotional lability HP:0000713 Agitation HP:0000716 Depression HP:0000717 Autism HP:0000718 Aggressive behavior HP:0000719 Inappropriate behavior HP:0000720 Mood swings HP:0000721 Lack of spontaneous play HP:0000722 Obsessive-compulsive behavior HP:0000723 Restrictive behavior HP:0000725 Psychotic episodes HP:0000726 Dementia HP:0000727 Frontal lobe dementia HP:0000728 Impaired ability to form peer relationships HP:0000729 Autistic behavior HP:0000732 Inflexible adherence to routines or rituals HP:0000733 Stereotypy HP:0000734 Disinhibition HP:0000735 Impaired social interactions HP:0000736 Short attention span HP:0000737 Irritability HP:0000738 Hallucinations HP:0000739 Anxiety HP:0000740 Episodic paroxysmal anxiety HP:0000741 Apathy HP:0000742 Self-mutilation HP:0000743 Frontal release signs HP:0000744 Low frustration tolerance HP:0000745 Diminished motivation HP:0000746 Delusions HP:0000748 Inappropriate laughter HP:0000749 Paroxysmal bursts of laughter HP:0000750 Delayed speech and language development HP:0000751 Personality changes HP:0000752 Hyperactivity HP:0000753 Autism with high cognitive abilities HP:0000756 Agoraphobia HP:0000757 Lack of insight HP:0000758 Impaired use of nonverbal behaviors HP:0000759 Abnormal peripheral nervous system morphology HP:0000762 Decreased nerve conduction velocity HP:0000763 Sensory neuropathy HP:0000764 Peripheral axonal degeneration HP:0000765 Abnormality of the thorax HP:0000766 Abnormality of the sternum HP:0000767 Pectus excavatum HP:0000768 Pectus carinatum HP:0000769 Abnormality of the breast HP:0000771 Gynecomastia HP:0000772 Abnormality of the ribs HP:0000773 Short ribs HP:0000774 Narrow chest HP:0000775 Abnormality of the diaphragm HP:0000776 Congenital diaphragmatic hernia HP:0000777 Abnormality of the thymus HP:0000778 Hypoplasia of the thymus HP:0000782 Abnormality of the scapula HP:0000786 Primary amenorrhea HP:0000787 Nephrolithiasis HP:0000789 Infertility HP:0000790 Hematuria HP:0000791 Uric acid nephrolithiasis HP:0000793 Membranoproliferative glomerulonephritis HP:0000794 IgA deposition in the glomerulus HP:0000795 Abnormality of the urethra HP:0000796 Urethral obstruction HP:0000798 Oligospermia HP:0000799 Renal steatosis HP:0000800 Cystic renal dysplasia HP:0000802 Impotence HP:0000803 Renal cortical cysts HP:0000804 Xanthine nephrolithiasis HP:0000805 Enuresis HP:0000807 Glandular hypospadias HP:0000808 Penoscrotal hypospadias HP:0000811 Abnormal external genitalia HP:0000812 Abnormal internal genitalia HP:0000813 Bicornuate uterus HP:0000815 Hypergonadotropic hypogonadism HP:0000816 Abnormality of Krebs cycle metabolism HP:0000817 Poor eye contact HP:0000818 Abnormality of the endocrine system HP:0000819 Diabetes mellitus HP:0000820 Abnormality of the thyroid gland HP:0000821 Hypothyroidism HP:0000822 Hypertension HP:0000823 Delayed puberty HP:0000824 Growth hormone deficiency HP:0000825 Hyperinsulinemic hypoglycemia HP:0000826 Precocious puberty HP:0000828 Abnormality of the parathyroid gland HP:0000829 Hypoparathyroidism HP:0000830 Anterior hypopituitarism HP:0000831 Insulin-resistant diabetes mellitus HP:0000832 Primary hypothyroidism HP:0000833 Glucose intolerance HP:0000834 Abnormality of the adrenal glands HP:0000835 Adrenal hypoplasia HP:0000836 Hyperthyroidism HP:0000837 Increased circulating gonadotropin level HP:0000839 Pituitary dwarfism HP:0000840 Adrenogenital syndrome HP:0000841 Hyperactive renin-angiotensin system HP:0000842 Hyperinsulinemia HP:0000843 Hyperparathyroidism HP:0000845 Growth hormone excess HP:0000846 Adrenal insufficiency HP:0000848 Increased circulating renin level HP:0000849 Adrenocortical abnormality HP:0000851 Congenital hypothyroidism HP:0000852 Pseudohypoparathyroidism HP:0000853 Goiter HP:0000854 Thyroid adenoma HP:0000855 Insulin resistance HP:0000857 Neonatal insulin-dependent diabetes mellitus HP:0000858 Menstrual irregularities HP:0000859 Hyperaldosteronism HP:0000860 Parathyroid hypoplasia HP:0000863 Central diabetes insipidus HP:0000864 Abnormality of the hypothalamus-pituitary axis HP:0000866 Euthyroid multinodular goiter HP:0000867 Secondary hyperparathyroidism HP:0000868 Decreased fertility in females HP:0000869 Secondary amenorrhea HP:0000870 Prolactin excess HP:0000871 Panhypopituitarism HP:0000872 Hashimoto thyroiditis HP:0000873 Diabetes insipidus HP:0000875 Episodic hypertension HP:0000876 Oligomenorrhea HP:0000877 Insulin-resistant diabetes mellitus at puberty HP:0000878 11 pairs of ribs HP:0000879 Short sternum HP:0000882 Hypoplastic scapulae HP:0000883 Thin ribs HP:0000884 Prominent sternum HP:0000885 Broad ribs HP:0000886 Deformed rib cage HP:0000887 Cupped ribs HP:0000888 Horizontal ribs HP:0000889 Abnormality of the clavicle HP:0000890 Long clavicles HP:0000891 Cervical ribs HP:0000892 Bifid ribs HP:0000893 Bulging of the costochondral junction HP:0000894 Short clavicles HP:0000895 Lateral clavicle hook HP:0000896 Rib exostoses HP:0000897 Rachitic rosary HP:0000900 Thickened ribs HP:0000902 Rib fusion HP:0000904 Flaring of rib cage HP:0000905 Progressive clavicular acroosteolysis HP:0000907 Anterior rib cupping HP:0000910 Wide-cupped costochondral junctions HP:0000911 Flat glenoid fossa HP:0000912 Sprengel anomaly HP:0000913 Posterior rib fusion HP:0000914 Shield chest HP:0000915 Pectus excavatum of inferior sternum HP:0000916 Broad clavicles HP:0000917 Superior pectus carinatum HP:0000918 Scapular exostoses HP:0000920 Enlargement of the costochondral junction HP:0000921 Missing ribs HP:0000922 Posterior rib cupping HP:0000923 Beaded ribs HP:0000924 Abnormality of the skeletal system HP:0000925 Abnormality of the vertebral column HP:0000926 Platyspondyly HP:0000929 Abnormality of the skull HP:0000930 Elevated imprint of the transverse sinuses HP:0000931 Thinning and bulging of the posterior fossa bones HP:0000932 Abnormality of the posterior cranial fossa HP:0000933 Posterior fossa cyst at the fourth ventricle HP:0000934 Chondrocalcinosis HP:0000935 Thickened cortex of long bones HP:0000938 Osteopenia HP:0000939 Osteoporosis HP:0000940 Abnormal diaphysis morphology HP:0000941 Short diaphyses HP:0000943 Dysostosis multiplex HP:0000944 Abnormality of the metaphysis HP:0000946 Hypoplastic ilia HP:0000947 Dumbbell-shaped long bone HP:0000951 Abnormality of the skin HP:0000952 Jaundice HP:0000953 Hyperpigmentation of the skin HP:0000954 Single transverse palmar crease HP:0000956 Acanthosis nigricans HP:0000957 Cafe-au-lait spot HP:0000958 Dry skin HP:0000960 Sacral dimple HP:0000961 Cyanosis HP:0000962 Hyperkeratosis HP:0000963 Thin skin HP:0000964 Eczema HP:0000965 Cutis marmorata HP:0000966 Hypohidrosis HP:0000967 Petechiae HP:0000968 Ectodermal dysplasia HP:0000969 Edema HP:0000970 Anhidrosis HP:0000971 Abnormality of the sweat gland HP:0000972 Palmoplantar hyperkeratosis HP:0000973 Cutis laxa HP:0000974 Hyperextensible skin HP:0000975 Hyperhidrosis HP:0000976 Eczematoid dermatitis HP:0000977 Soft skin HP:0000978 Bruising susceptibility HP:0000979 Purpura HP:0000980 Pallor HP:0000982 Palmoplantar keratoderma HP:0000987 Atypical scarring of skin HP:0000988 Skin rash HP:0000989 Pruritus HP:0000991 Xanthomatosis HP:0000992 Cutaneous photosensitivity HP:0000993 Molluscoid pseudotumors HP:0000995 Melanocytic nevus HP:0000996 Facial capillary hemangioma HP:0000997 Axillary freckling HP:0000998 Hypertrichosis HP:0000999 Pyoderma HP:0001000 Abnormality of skin pigmentation HP:0001001 Abnormality of subcutaneous fat tissue HP:0001003 Multiple lentigines HP:0001004 Lymphedema HP:0001006 Hypotrichosis HP:0001007 Hirsutism HP:0001008 Accumulation of melanosomes in melanocytes HP:0001009 Telangiectasia HP:0001010 Hypopigmentation of the skin HP:0001012 Multiple lipomas HP:0001013 Eruptive xanthomas HP:0001014 Angiokeratoma HP:0001015 Prominent superficial veins HP:0001017 Anemic pallor HP:0001018 Abnormal palmar dermatoglyphics HP:0001019 Erythroderma HP:0001022 Albinism HP:0001024 Skin dimple over apex of long bone angulation HP:0001025 Urticaria HP:0001026 Penetrating foot ulcers HP:0001027 Soft, doughy skin HP:0001028 Hemangioma HP:0001029 Poikiloderma HP:0001030 Fragile skin HP:0001031 Subcutaneous lipoma HP:0001032 Absent distal interphalangeal creases HP:0001033 Facial flushing after alcohol intake HP:0001034 Hypermelanotic macule HP:0001036 Parakeratosis HP:0001038 Warfarin-induced skin necrosis HP:0001039 Atheroeruptive xanthoma HP:0001040 Multiple pterygia HP:0001041 Facial erythema HP:0001042 High axial triradius HP:0001043 Prominent scalp veins HP:0001045 Vitiligo HP:0001046 Intermittent jaundice HP:0001047 Atopic dermatitis HP:0001048 Cavernous hemangioma HP:0001049 Absent dorsal skin creases over affected joints HP:0001050 Plethora HP:0001051 Seborrheic dermatitis HP:0001052 Nevus flammeus HP:0001053 Hypopigmented skin patches HP:0001054 Numerous nevi HP:0001055 Erysipelas HP:0001056 Milia HP:0001057 Aplasia cutis congenita HP:0001058 Poor wound healing HP:0001059 Pterygium HP:0001060 Axillary pterygia HP:0001061 Acne HP:0001062 Atypical nevus HP:0001063 Acrocyanosis HP:0001065 Striae distensae HP:0001067 Neurofibromas HP:0001069 Episodic hyperhidrosis HP:0001070 Mottled pigmentation HP:0001071 Angiokeratoma corporis diffusum HP:0001072 Thickened skin HP:0001073 Cigarette-paper scars HP:0001074 Atypical nevi in non-sun exposed areas HP:0001075 Atrophic scars HP:0001076 Glabellar hemangioma HP:0001080 Biliary tract abnormality HP:0001081 Cholelithiasis HP:0001082 Cholecystitis HP:0001083 Ectopia lentis HP:0001084 Corneal arcus HP:0001085 Papilledema HP:0001087 Congenital glaucoma HP:0001088 Brushfield spots HP:0001089 Iris atrophy HP:0001090 Large eyes HP:0001092 Absent lacrimal punctum HP:0001093 Optic nerve dysplasia HP:0001094 Iridocyclitis HP:0001095 Hypertensive retinopathy HP:0001096 Keratoconjunctivitis HP:0001097 Keratoconjunctivitis sicca HP:0001099 Fundus atrophy HP:0001100 Heterochromia iridis HP:0001101 Iritis HP:0001102 Angioid streaks of the retina HP:0001103 Abnormality of the macula HP:0001104 Macular hypoplasia HP:0001105 Retinal atrophy HP:0001106 Periorbital hyperpigmentation HP:0001107 Ocular albinism HP:0001112 Leber optic atrophy HP:0001114 Xanthelasma HP:0001115 Posterior polar cataract HP:0001116 Macular coloboma HP:0001117 Sudden loss of visual acuity HP:0001118 Juvenile cataract HP:0001119 Keratoglobus HP:0001120 Abnormality of corneal size HP:0001123 Visual field defect HP:0001125 Transient unilateral blurring of vision HP:0001126 Cryptophthalmos HP:0001128 Trichiasis HP:0001129 Large central visual field defect HP:0001131 Corneal dystrophy HP:0001132 Lens subluxation HP:0001133 Constriction of peripheral visual field HP:0001134 Anterior polar cataract HP:0001136 Retinal arteriolar tortuosity HP:0001137 Alternating esotropia HP:0001138 Optic neuropathy HP:0001139 Choroideremia HP:0001140 Epibulbar dermoid HP:0001141 Severe visual impairment HP:0001142 Lenticonus HP:0001144 Orbital cyst HP:0001146 Pigmentary retinal degeneration HP:0001147 Retinal exudate HP:0001149 Lattice corneal dystrophy HP:0001151 Impaired horizontal smooth pursuit HP:0001152 Saccadic smooth pursuit HP:0001153 Septate vagina HP:0001155 Abnormality of the hand HP:0001156 Brachydactyly HP:0001159 Syndactyly HP:0001161 Hand polydactyly HP:0001162 Postaxial hand polydactyly HP:0001163 Abnormality of the metacarpal bones HP:0001166 Arachnodactyly HP:0001167 Abnormality of finger HP:0001169 Broad palm HP:0001171 Split hand HP:0001172 Abnormality of the thumb HP:0001176 Large hands HP:0001177 Preaxial hand polydactyly HP:0001178 Ulnar claw HP:0001180 Hand oligodactyly HP:0001181 Adducted thumb HP:0001182 Tapered finger HP:0001187 Hyperextensibility of the finger joints HP:0001188 Hand clenching HP:0001191 Abnormality of the carpal bones HP:0001193 Ulnar deviation of the hand or of fingers of the hand HP:0001194 Abnormalities of placenta or umbilical cord HP:0001195 Single umbilical artery HP:0001196 Short umbilical cord HP:0001197 Abnormality of prenatal development or birth HP:0001199 Triphalangeal thumb HP:0001204 Distal symphalangism of hands HP:0001211 Abnormality of the fingertips HP:0001212 Prominent fingertip pads HP:0001215 Camptodactyly of 2nd-5th fingers HP:0001216 Delayed ossification of carpal bones HP:0001217 Clubbing HP:0001218 Autoamputation HP:0001220 Interphalangeal joint contracture of finger HP:0001222 Spatulate thumbs HP:0001223 Pointed proximal second through fifth metacarpals HP:0001225 Wrist swelling HP:0001226 Acral ulceration and osteomyelitis leading to autoamputation of digits HP:0001227 Abnormality of the thenar eminence HP:0001230 Broad metacarpals HP:0001231 Abnormality of the fingernails HP:0001232 Nail bed telangiectasia HP:0001233 2-3 finger syndactyly HP:0001234 Hitchhiker thumb HP:0001238 Slender finger HP:0001239 Wrist flexion contracture HP:0001241 Capitate-hamate fusion HP:0001245 Small thenar eminence HP:0001248 Short tubular bones of the hand HP:0001249 Intellectual disability HP:0001250 Seizures HP:0001251 Ataxia HP:0001252 Muscular hypotonia HP:0001254 Lethargy HP:0001256 Intellectual disability, mild HP:0001257 Spasticity HP:0001258 Spastic paraplegia HP:0001259 Coma HP:0001260 Dysarthria HP:0001262 Excessive daytime somnolence HP:0001263 Global developmental delay HP:0001264 Spastic diplegia HP:0001265 Hyporeflexia HP:0001266 Choreoathetosis HP:0001268 Mental deterioration HP:0001269 Hemiparesis HP:0001270 Motor delay HP:0001271 Polyneuropathy HP:0001272 Cerebellar atrophy HP:0001273 Abnormality of the corpus callosum HP:0001274 Agenesis of corpus callosum HP:0001278 Orthostatic hypotension HP:0001279 Syncope HP:0001281 Tetany HP:0001283 Bulbar palsy HP:0001284 Areflexia HP:0001285 Spastic tetraparesis HP:0001287 Meningitis HP:0001288 Gait disturbance HP:0001289 Confusion HP:0001290 Generalized hypotonia HP:0001291 Abnormality of the cranial nerves HP:0001293 Cranial nerve compression HP:0001297 Stroke HP:0001298 Encephalopathy HP:0001300 Parkinsonism HP:0001301 Chronic sensorineural polyneuropathy HP:0001302 Pachygyria HP:0001304 Torsion dystonia HP:0001305 Dandy-Walker malformation HP:0001308 Tongue fasciculations HP:0001310 Dysmetria HP:0001311 Abnormal nervous system electrophysiology HP:0001312 Giant somatosensory evoked potentials HP:0001315 Reduced tendon reflexes HP:0001317 Abnormality of the cerebellum HP:0001319 Neonatal hypotonia HP:0001320 Cerebellar vermis hypoplasia HP:0001321 Cerebellar hypoplasia HP:0001322 Brain very small HP:0001324 Muscle weakness HP:0001325 Hypoglycemic coma HP:0001326 EEG with irregular generalized spike and wave complexes HP:0001327 Photomyoclonic seizures HP:0001328 Specific learning disability HP:0001331 Absent septum pellucidum HP:0001332 Dystonia HP:0001334 Communicating hydrocephalus HP:0001335 Bimanual synkinesia HP:0001336 Myoclonus HP:0001337 Tremor HP:0001338 Partial agenesis of the corpus callosum HP:0001339 Lissencephaly HP:0001340 Enhancement of the C-reflex HP:0001341 Olfactory lobe agenesis HP:0001342 Cerebral hemorrhage HP:0001343 Kernicterus HP:0001344 Absent speech HP:0001345 Psychotic mentation HP:0001347 Hyperreflexia HP:0001348 Brisk reflexes HP:0001349 Facial diplegia HP:0001350 Slurred speech HP:0001351 Jerk-locked premyoclonus spikes HP:0001355 Megalencephaly HP:0001357 Plagiocephaly HP:0001360 Holoprosencephaly HP:0001361 Nystagmus-induced head nodding HP:0001362 Calvarial skull defect HP:0001363 Craniosynostosis HP:0001367 Abnormal joint morphology HP:0001369 Arthritis HP:0001370 Rheumatoid arthritis HP:0001371 Flexion contracture HP:0001373 Joint dislocation HP:0001374 Congenital hip dislocation HP:0001376 Limitation of joint mobility HP:0001377 Limited elbow extension HP:0001382 Joint hypermobility HP:0001384 Abnormality of the hip joint HP:0001385 Hip dysplasia HP:0001386 Joint swelling HP:0001387 Joint stiffness HP:0001388 Joint laxity HP:0001392 Abnormality of the liver HP:0001394 Cirrhosis HP:0001395 Hepatic fibrosis HP:0001396 Cholestasis HP:0001397 Hepatic steatosis HP:0001399 Hepatic failure HP:0001400 Hepatic abscesses due to immunodeficiency HP:0001401 Intrahepatic biliary dysgenesis HP:0001402 Hepatocellular carcinoma HP:0001403 Macrovesicular hepatic steatosis HP:0001404 Hepatocellular necrosis HP:0001405 Periportal fibrosis HP:0001406 Intrahepatic cholestasis HP:0001407 Hepatic cysts HP:0001408 Bile duct proliferation HP:0001409 Portal hypertension HP:0001410 Decreased liver function HP:0001412 Enteroviral hepatitis HP:0001413 Micronodular cirrhosis HP:0001414 Microvesicular hepatic steatosis HP:0001430 Abnormality of the calf musculature HP:0001433 Hepatosplenomegaly HP:0001435 Abnormality of the shoulder girdle musculature HP:0001437 Abnormality of the musculature of the lower limbs HP:0001438 Abnormality of abdomen morphology HP:0001440 Metatarsal synostosis HP:0001449 Duplication of metatarsal bones HP:0001459 1-3 toe syndactyly HP:0001473 Metatarsal osteolysis HP:0001474 Sclerotic scapulae HP:0001476 Delayed closure of the anterior fontanelle HP:0001477 Compensatory chin elevation HP:0001480 Freckling HP:0001482 Subcutaneous nodule HP:0001483 Eye poking HP:0001488 Bilateral ptosis HP:0001489 Posterior vitreous detachment HP:0001491 Congenital fibrosis of extraocular muscles HP:0001492 Axenfeld anomaly HP:0001493 Falciform retinal fold HP:0001495 Carpal osteolysis HP:0001498 Carpal bone hypoplasia HP:0001500 Broad finger HP:0001501 6 metacarpals HP:0001504 Metacarpal osteolysis HP:0001507 Growth abnormality HP:0001508 Failure to thrive HP:0001510 Growth delay HP:0001511 Intrauterine growth retardation HP:0001513 Obesity HP:0001518 Small for gestational age HP:0001519 Disproportionate tall stature HP:0001520 Large for gestational age HP:0001522 Death in infancy HP:0001525 Severe failure to thrive HP:0001528 Hemihypertrophy HP:0001530 Mild postnatal growth retardation HP:0001531 Failure to thrive in infancy HP:0001533 Slender build HP:0001537 Umbilical hernia HP:0001538 Protuberant abdomen HP:0001539 Omphalocele HP:0001540 Diastasis recti HP:0001541 Ascites HP:0001543 Gastroschisis HP:0001544 Prominent umbilicus HP:0001545 Anteriorly placed anus HP:0001547 Abnormality of the rib cage HP:0001548 Overgrowth HP:0001549 Abnormality of the ileum HP:0001551 Abnormality of the umbilicus HP:0001552 Barrel-shaped chest HP:0001555 Asymmetry of the thorax HP:0001557 Prenatal movement abnormality HP:0001558 Decreased fetal movement HP:0001560 Abnormality of the amniotic fluid HP:0001561 Polyhydramnios HP:0001562 Oligohydramnios HP:0001563 Fetal polyuria HP:0001566 Widely-spaced maxillary central incisors HP:0001571 Multiple impacted teeth HP:0001572 Macrodontia HP:0001574 Abnormality of the integument HP:0001575 Mood changes HP:0001579 Primary hypercorticolism HP:0001580 Pigmented micronodular adrenocortical disease HP:0001581 Recurrent skin infections HP:0001582 Redundant skin HP:0001583 Rotary nystagmus HP:0001586 Vesicovaginal fistula HP:0001591 Bell-shaped thorax HP:0001592 Selective tooth agenesis HP:0001593 Maxillary lateral incisor microdontia HP:0001595 Abnormality of the hair HP:0001597 Abnormality of the nail HP:0001598 Concave nail HP:0001600 Abnormality of the larynx HP:0001601 Laryngomalacia HP:0001602 Laryngeal stenosis HP:0001604 Vocal cord paresis HP:0001605 Vocal cord paralysis HP:0001607 Subglottic stenosis HP:0001608 Abnormality of the voice HP:0001609 Hoarse voice HP:0001611 Nasal speech HP:0001612 Weak cry HP:0001615 Hoarse cry HP:0001618 Dysphonia HP:0001620 High pitched voice HP:0001621 Weak voice HP:0001622 Premature birth HP:0001623 Breech presentation HP:0001626 Abnormality of the cardiovascular system HP:0001627 Abnormal heart morphology HP:0001629 Ventricular septal defect HP:0001631 Atrial septal defect HP:0001633 Abnormality of the mitral valve HP:0001634 Mitral valve prolapse HP:0001635 Congestive heart failure HP:0001636 Tetralogy of Fallot HP:0001637 Abnormality of the myocardium HP:0001638 Cardiomyopathy HP:0001639 Hypertrophic cardiomyopathy HP:0001640 Cardiomegaly HP:0001641 Abnormality of the pulmonary valve HP:0001642 Pulmonic stenosis HP:0001643 Patent ductus arteriosus HP:0001644 Dilated cardiomyopathy HP:0001645 Sudden cardiac death HP:0001646 Abnormality of the aortic valve HP:0001647 Bicuspid aortic valve HP:0001648 Cor pulmonale HP:0001649 Tachycardia HP:0001650 Aortic valve stenosis HP:0001651 Dextrocardia HP:0001653 Mitral regurgitation HP:0001654 Abnormality of the heart valves HP:0001655 Patent foramen ovale HP:0001657 Prolonged QT interval HP:0001658 Myocardial infarction HP:0001659 Aortic regurgitation HP:0001660 Truncus arteriosus HP:0001662 Bradycardia HP:0001663 Ventricular fibrillation HP:0001664 Torsade de pointes HP:0001667 Right ventricular hypertrophy HP:0001669 Transposition of the great arteries HP:0001670 Asymmetric septal hypertrophy HP:0001671 Abnormality of the cardiac septa HP:0001674 Complete atrioventricular canal defect HP:0001677 Coronary artery disease HP:0001678 Atrioventricular block HP:0001679 Abnormality of the aorta HP:0001680 Coarctation of aorta HP:0001681 Angina pectoris HP:0001682 Subaortic stenosis HP:0001683 Ectopia cordis HP:0001684 Secundum atrial septal defect HP:0001685 Myocardial fibrosis HP:0001686 Loss of voice HP:0001688 Sinus bradycardia HP:0001691 Muscular subvalvular aortic stenosis HP:0001692 Primary atrial arrhythmia HP:0001693 Cardiac shunt HP:0001694 Right-to-left shunt HP:0001695 Cardiac arrest HP:0001696 Situs inversus totalis HP:0001697 Abnormality of the pericardium HP:0001698 Pericardial effusion HP:0001699 Sudden death HP:0001700 Myocardial necrosis HP:0001701 Pericarditis HP:0001702 Abnormality of the tricuspid valve HP:0001704 Tricuspid valve prolapse HP:0001705 Right ventricular outlet obstruction HP:0001706 Endocardial fibroelastosis HP:0001707 Abnormality of the right ventricle HP:0001708 Right ventricular failure HP:0001709 Third degree atrioventricular block HP:0001710 Conotruncal defect HP:0001711 Abnormal morphology of the left ventricle HP:0001712 Left ventricular hypertrophy HP:0001713 Abnormality of cardiac ventricle HP:0001714 Ventricular hypertrophy HP:0001716 Wolff-Parkinson-White syndrome HP:0001717 Coronary artery calcification HP:0001718 Mitral stenosis HP:0001719 Double outlet right ventricle HP:0001722 High-output congestive heart failure HP:0001723 Restrictive cardiomyopathy HP:0001724 Aortic dilatation HP:0001727 Thromboembolic stroke HP:0001730 Progressive hearing impairment HP:0001732 Abnormality of the pancreas HP:0001733 Pancreatitis HP:0001734 Annular pancreas HP:0001735 Acute pancreatitis HP:0001737 Pancreatic cysts HP:0001738 Exocrine pancreatic insufficiency HP:0001739 Abnormality of the nasopharynx HP:0001741 Phimosis HP:0001742 Nasal obstruction HP:0001743 Abnormality of the spleen HP:0001744 Splenomegaly HP:0001746 Asplenia HP:0001747 Accessory spleen HP:0001748 Polysplenia HP:0001750 Single ventricle HP:0001751 Vestibular dysfunction HP:0001756 Vestibular hypofunction HP:0001757 High-frequency sensorineural hearing impairment HP:0001760 Abnormality of the foot HP:0001761 Pes cavus HP:0001762 Talipes equinovarus HP:0001763 Pes planus HP:0001765 Hammertoe HP:0001769 Broad foot HP:0001770 Toe syndactyly HP:0001771 Achilles tendon contracture HP:0001772 Talipes equinovalgus HP:0001773 Short foot HP:0001776 Bilateral talipes equinovarus HP:0001780 Abnormality of toe HP:0001782 Bulbous tips of toes HP:0001783 Broad metatarsal HP:0001785 Ankle swelling HP:0001786 Narrow foot HP:0001787 Abnormal delivery HP:0001788 Premature rupture of membranes HP:0001789 Hydrops fetalis HP:0001790 Nonimmune hydrops fetalis HP:0001791 Fetal ascites HP:0001792 Small nail HP:0001795 Hyperconvex nail HP:0001798 Anonychia HP:0001799 Short nail HP:0001800 Hypoplastic toenails HP:0001802 Absent toenail HP:0001803 Nail pits HP:0001804 Hypoplastic fingernail HP:0001805 Thick nail HP:0001806 Onycholysis HP:0001807 Ridged nail HP:0001808 Fragile nails HP:0001809 Split nail HP:0001810 Dystrophic toenail HP:0001812 Hyperconvex fingernails HP:0001814 Deep-set nails HP:0001816 Thin nail HP:0001817 Absent fingernail HP:0001818 Paronychia HP:0001820 Leukonychia HP:0001821 Broad nail HP:0001822 Hallux valgus HP:0001824 Weight loss HP:0001827 Genital tract atresia HP:0001829 Foot polydactyly HP:0001830 Postaxial foot polydactyly HP:0001831 Short toe HP:0001832 Abnormality of the metatarsal bones HP:0001833 Long foot HP:0001836 Camptodactyly of toe HP:0001837 Broad toe HP:0001838 Rocker bottom foot HP:0001839 Split foot HP:0001840 Metatarsus adductus HP:0001841 Preaxial foot polydactyly HP:0001842 Foot acroosteolysis HP:0001844 Abnormality of the hallux HP:0001845 Overlapping toe HP:0001847 Long hallux HP:0001848 Calcaneovalgus deformity HP:0001849 Foot oligodactyly HP:0001850 Abnormality of the tarsal bones HP:0001852 Sandal gap HP:0001853 Bifid distal phalanx of toe HP:0001854 Podagra HP:0001857 Short distal phalanx of toe HP:0001859 Distal foot symphalangism HP:0001862 Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) HP:0001863 Toe clinodactyly HP:0001864 Clinodactyly of the 5th toe HP:0001868 Autoamputation of foot HP:0001869 Deep plantar creases HP:0001870 Acroosteolysis of distal phalanges (feet) HP:0001871 Abnormality of blood and blood-forming tissues HP:0001872 Abnormality of thrombocytes HP:0001873 Thrombocytopenia HP:0001874 Abnormality of neutrophils HP:0001875 Neutropenia HP:0001876 Pancytopenia HP:0001877 Abnormality of erythrocytes HP:0001878 Hemolytic anemia HP:0001879 Abnormality of eosinophils HP:0001880 Eosinophilia HP:0001881 Abnormality of leukocytes HP:0001882 Leukopenia HP:0001884 Talipes calcaneovalgus HP:0001885 Short 2nd toe HP:0001886 Foot osteomyelitis HP:0001888 Lymphopenia HP:0001889 Megaloblastic anemia HP:0001890 Autoimmune hemolytic anemia HP:0001891 Iron deficiency anemia HP:0001892 Abnormal bleeding HP:0001894 Thrombocytosis HP:0001895 Normochromic anemia HP:0001896 Reticulocytopenia HP:0001897 Normocytic anemia HP:0001898 Increased red blood cell mass HP:0001899 Increased hematocrit HP:0001900 Increased hemoglobin HP:0001901 Polycythemia HP:0001902 Giant platelets HP:0001903 Anemia HP:0001904 Autoimmune neutropenia HP:0001905 Congenital thrombocytopenia HP:0001907 Thromboembolism HP:0001908 Hypoplastic anemia HP:0001909 Leukemia HP:0001911 Abnormality of granulocytes HP:0001912 Abnormality of basophils HP:0001913 Granulocytopenia HP:0001915 Aplastic anemia HP:0001917 Renal amyloidosis HP:0001919 Acute kidney injury HP:0001920 Renal artery stenosis HP:0001922 Vacuolated lymphocytes HP:0001923 Reticulocytosis HP:0001924 Sideroblastic anemia HP:0001927 Acanthocytosis HP:0001928 Abnormality of coagulation HP:0001929 Reduced factor XI activity HP:0001930 Nonspherocytic hemolytic anemia HP:0001931 Hypochromic anemia HP:0001933 Subcutaneous hemorrhage HP:0001934 Persistent bleeding after trauma HP:0001935 Microcytic anemia HP:0001937 Microangiopathic hemolytic anemia HP:0001939 Abnormality of metabolism/homeostasis HP:0001941 Acidosis HP:0001942 Metabolic acidosis HP:0001943 Hypoglycemia HP:0001944 Dehydration HP:0001945 Fever HP:0001946 Ketosis HP:0001947 Renal tubular acidosis HP:0001948 Alkalosis HP:0001949 Hypokalemic alkalosis HP:0001950 Respiratory alkalosis HP:0001951 Episodic ammonia intoxication HP:0001953 Diabetic ketoacidosis HP:0001954 Episodic fever HP:0001955 Unexplained fevers HP:0001956 Truncal obesity HP:0001958 Nonketotic hypoglycemia HP:0001959 Polydipsia HP:0001960 Hypokalemic metabolic alkalosis HP:0001961 Hypoplastic heart HP:0001962 Palpitations HP:0001963 Abnormal speech discrimination HP:0001964 Aplasia/Hypoplasia of metatarsal bones HP:0001965 Abnormality of the scalp HP:0001966 Mesangial abnormality HP:0001967 Diffuse mesangial sclerosis HP:0001969 Tubulointerstitial abnormality HP:0001970 Tubulointerstitial nephritis HP:0001971 Hypersplenism HP:0001972 Macrocytic anemia HP:0001973 Autoimmune thrombocytopenia HP:0001974 Leukocytosis HP:0001975 Decreased platelet glycoprotein IIb-IIIa HP:0001976 Reduced antithrombin III activity HP:0001977 Abnormal thrombosis HP:0001978 Extramedullary hematopoiesis HP:0001980 Megaloblastic bone marrow HP:0001981 Schistocytosis HP:0001982 Sea-blue histiocytosis HP:0001983 Reduced lymphocyte surface expression of CD43 HP:0001984 Intolerance to protein HP:0001985 Hypoketotic hypoglycemia HP:0001986 Hypertonic dehydration HP:0001987 Hyperammonemia HP:0001988 Recurrent hypoglycemia HP:0001989 Fetal akinesia sequence HP:0001991 Aplasia/Hypoplasia of toe HP:0001992 Organic aciduria HP:0001993 Ketoacidosis HP:0001994 Renal Fanconi syndrome HP:0001995 Hyperchloremic acidosis HP:0001996 Chronic metabolic acidosis HP:0001997 Gout HP:0001998 Neonatal hypoglycemia HP:0001999 Abnormal facial shape HP:0002000 Short columella HP:0002002 Deep philtrum HP:0002003 Large forehead HP:0002006 Facial cleft HP:0002007 Frontal bossing HP:0002009 Potter facies HP:0002010 Narrow maxilla HP:0002011 Morphological abnormality of the central nervous system HP:0002012 Abnormality of the abdominal organs HP:0002013 Vomiting HP:0002014 Diarrhea HP:0002015 Dysphagia HP:0002017 Nausea and vomiting HP:0002018 Nausea HP:0002019 Constipation HP:0002020 Gastroesophageal reflux HP:0002021 Pyloric stenosis HP:0002023 Anal atresia HP:0002024 Malabsorption HP:0002025 Anal stenosis HP:0002027 Abdominal pain HP:0002028 Chronic diarrhea HP:0002031 Abnormality of esophagus morphology HP:0002032 Esophageal atresia HP:0002033 Poor suck HP:0002034 Abnormality of the rectum HP:0002035 Rectal prolapse HP:0002036 Hiatus hernia HP:0002037 Inflammation of the large intestine HP:0002038 Protein avoidance HP:0002039 Anorexia HP:0002040 Esophageal varix HP:0002041 Intractable diarrhea HP:0002043 Esophageal stricture HP:0002044 Zollinger-Ellison syndrome HP:0002045 Hypothermia HP:0002046 Heat intolerance HP:0002047 Malignant hyperthermia HP:0002048 Renal cortical atrophy HP:0002049 Proximal renal tubular acidosis HP:0002050 Macroorchidism, postpubertal HP:0002054 Heavy supraorbital ridges HP:0002055 Curved linear dimple below the lower lip HP:0002057 Prominent glabella HP:0002058 Myopathic facies HP:0002059 Cerebral atrophy HP:0002060 Abnormality of the cerebrum HP:0002061 Lower limb spasticity HP:0002062 Morphological abnormality of the pyramidal tract HP:0002063 Rigidity HP:0002064 Spastic gait HP:0002066 Gait ataxia HP:0002067 Bradykinesia HP:0002069 Generalized tonic-clonic seizures HP:0002070 Limb ataxia HP:0002071 Abnormality of extrapyramidal motor function HP:0002072 Chorea HP:0002073 Progressive cerebellar ataxia HP:0002074 Increased neuronal autofluorescent lipopigment HP:0002075 Dysdiadochokinesis HP:0002076 Migraine HP:0002077 Migraine with aura HP:0002078 Truncal ataxia HP:0002079 Hypoplasia of the corpus callosum HP:0002080 Intention tremor HP:0002083 Migraine without aura HP:0002084 Encephalocele HP:0002085 Occipital encephalocele HP:0002086 Abnormality of the respiratory system HP:0002088 Abnormality of lung morphology HP:0002089 Pulmonary hypoplasia HP:0002090 Pneumonia HP:0002091 Restrictive ventilatory defect HP:0002092 Pulmonary arterial hypertension HP:0002093 Respiratory insufficiency HP:0002094 Dyspnea HP:0002097 Emphysema HP:0002098 Respiratory distress HP:0002099 Asthma HP:0002100 Recurrent aspiration pneumonia HP:0002101 Abnormal lung lobation HP:0002102 Pleuritis HP:0002103 Abnormality of the pleura HP:0002104 Apnea HP:0002105 Hemoptysis HP:0002107 Pneumothorax HP:0002108 Spontaneous pneumothorax HP:0002109 Abnormality of the bronchi HP:0002110 Bronchiectasis HP:0002111 Restrictive deficit on pulmonary function testing HP:0002113 Pulmonary infiltrates HP:0002119 Ventriculomegaly HP:0002120 Cerebral cortical atrophy HP:0002121 Absence seizures HP:0002123 Generalized myoclonic seizures HP:0002126 Polymicrogyria HP:0002127 Abnormal upper motor neuron morphology HP:0002131 Episodic ataxia HP:0002132 Porencephaly HP:0002133 Status epilepticus HP:0002134 Abnormality of the basal ganglia HP:0002135 Basal ganglia calcification HP:0002136 Broad-based gait HP:0002138 Subarachnoid hemorrhage HP:0002139 Arrhinencephaly HP:0002140 Ischemic stroke HP:0002141 Gait imbalance HP:0002143 Abnormality of the spinal cord HP:0002144 Tethered cord HP:0002145 Frontotemporal dementia HP:0002148 Hypophosphatemia HP:0002149 Hyperuricemia HP:0002150 Hypercalciuria HP:0002151 Increased serum lactate HP:0002152 Hyperproteinemia HP:0002153 Hyperkalemia HP:0002154 Hyperglycinemia HP:0002155 Hypertriglyceridemia HP:0002156 Homocystinuria HP:0002157 Azotemia HP:0002159 Heparan sulfate excretion in urine HP:0002160 Hyperhomocystinemia HP:0002161 Hyperlysinemia HP:0002162 Low posterior hairline HP:0002164 Nail dysplasia HP:0002165 Pterygium of nails HP:0002166 Impaired vibration sensation in the lower limbs HP:0002167 Neurological speech impairment HP:0002168 Scanning speech HP:0002169 Clonus HP:0002170 Intracranial hemorrhage HP:0002171 Gliosis HP:0002172 Postural instability HP:0002173 Hypoglycemic seizures HP:0002174 Postural tremor HP:0002176 Spinal cord compression HP:0002179 Opisthotonus HP:0002180 Neurodegeneration HP:0002181 Cerebral edema HP:0002183 Phonophobia HP:0002185 Neurofibrillary tangles HP:0002186 Apraxia HP:0002187 Intellectual disability, profound HP:0002188 Delayed CNS myelination HP:0002189 Excessive daytime sleepiness HP:0002190 Choroid plexus cyst HP:0002191 Progressive spasticity HP:0002193 Pseudobulbar behavioral symptoms HP:0002194 Delayed gross motor development HP:0002195 Dysgenesis of the cerebellar vermis HP:0002196 Myelopathy HP:0002197 Generalized seizures HP:0002198 Dilated fourth ventricle HP:0002199 Hypocalcemic seizures HP:0002200 Pseudobulbar signs HP:0002202 Pleural effusion HP:0002203 Respiratory paralysis HP:0002204 Pulmonary embolism HP:0002205 Recurrent respiratory infections HP:0002206 Pulmonary fibrosis HP:0002207 Diffuse reticular or finely nodular infiltrations HP:0002208 Coarse hair HP:0002209 Sparse scalp hair HP:0002211 White forelock HP:0002212 Curly hair HP:0002213 Fine hair HP:0002215 Sparse axillary hair HP:0002216 Premature graying of hair HP:0002217 Slow-growing hair HP:0002218 Silver-gray hair HP:0002219 Facial hypertrichosis HP:0002220 Melanin pigment aggregation in hair shafts HP:0002221 Absent axillary hair HP:0002223 Absent eyebrow HP:0002224 Woolly hair HP:0002225 Sparse pubic hair HP:0002226 White eyebrow HP:0002227 White eyelashes HP:0002229 Alopecia areata HP:0002230 Generalized hirsutism HP:0002231 Sparse body hair HP:0002232 Patchy alopecia HP:0002234 Early balding HP:0002235 Pili canaliculi HP:0002236 Frontal upsweep of hair HP:0002239 Gastrointestinal hemorrhage HP:0002240 Hepatomegaly HP:0002242 Abnormality of the intestine HP:0002243 Protein-losing enteropathy HP:0002244 Abnormality of the small intestine HP:0002245 Meckel diverticulum HP:0002246 Abnormality of the duodenum HP:0002247 Duodenal atresia HP:0002248 Hematemesis HP:0002249 Melena HP:0002250 Abnormality of the large intestine HP:0002251 Aganglionic megacolon HP:0002253 Colonic diverticula HP:0002254 Intermittent diarrhea HP:0002256 Small bowel diverticula HP:0002257 Chronic rhinitis HP:0002263 Exaggerated cupid's bow HP:0002265 Large fleshy ears HP:0002266 Focal clonic seizures HP:0002267 Exaggerated startle response HP:0002268 Paroxysmal dystonia HP:0002269 Abnormality of neuronal migration HP:0002270 Abnormality of the autonomic nervous system HP:0002271 Autonomic dysregulation HP:0002273 Tetraparesis HP:0002275 Poor motor coordination HP:0002277 Horner syndrome HP:0002280 Enlarged cisterna magna HP:0002281 Gray matter heterotopias HP:0002282 Heterotopia HP:0002283 Global brain atrophy HP:0002286 Fair hair HP:0002287 Progressive alopecia HP:0002289 Alopecia universalis HP:0002290 Poliosis HP:0002292 Frontal balding HP:0002293 Alopecia of scalp HP:0002296 Progressive hypotrichosis HP:0002297 Red hair HP:0002298 Absent hair HP:0002299 Brittle hair HP:0002300 Mutism HP:0002301 Hemiplegia HP:0002304 Akinesia HP:0002305 Athetosis HP:0002307 Drooling HP:0002308 Arnold-Chiari malformation HP:0002310 Orofacial dyskinesia HP:0002311 Incoordination HP:0002312 Clumsiness HP:0002313 Spastic paraparesis HP:0002314 Degeneration of the lateral corticospinal tracts HP:0002315 Headache HP:0002317 Unsteady gait HP:0002318 Cervical myelopathy HP:0002321 Vertigo HP:0002322 Resting tremor HP:0002323 Anencephaly HP:0002324 Hydranencephaly HP:0002326 Transient ischemic attack HP:0002329 Drowsiness HP:0002330 Paroxysmal drowsiness HP:0002331 Recurrent paroxysmal headache HP:0002332 Lack of peer relationships HP:0002333 Motor deterioration HP:0002334 Abnormality of the cerebellar vermis HP:0002335 Agenesis of cerebellar vermis HP:0002339 Abnormality of the caudate nucleus HP:0002340 Caudate atrophy HP:0002341 Cervical cord compression HP:0002342 Intellectual disability, moderate HP:0002343 Normal pressure hydrocephalus HP:0002344 Progressive neurologic deterioration HP:0002345 Action tremor HP:0002346 Head tremor HP:0002349 Focal seizures without impairment of consciousness or awareness HP:0002350 Cerebellar cyst HP:0002352 Leukoencephalopathy HP:0002353 EEG abnormality HP:0002354 Memory impairment HP:0002355 Difficulty walking HP:0002356 Writer's cramp HP:0002357 Dysphasia HP:0002359 Frequent falls HP:0002360 Sleep disturbance HP:0002361 Psychomotor deterioration HP:0002362 Shuffling gait HP:0002363 Abnormality of brainstem morphology HP:0002365 Hypoplasia of the brainstem HP:0002366 Abnormal lower motor neuron morphology HP:0002367 Visual hallucinations HP:0002370 Poor coordination HP:0002371 Loss of speech HP:0002372 Normal interictal EEG HP:0002373 Febrile seizures HP:0002374 Diminished movement HP:0002376 Developmental regression HP:0002378 Hand tremor HP:0002380 Fasciculations HP:0002381 Aphasia HP:0002383 Encephalitis HP:0002384 Focal seizures with impairment of consciousness or awareness HP:0002385 Paraparesis HP:0002389 Cavum septum pellucidum HP:0002390 Spinal arteriovenous malformation HP:0002392 EEG with polyspike wave complexes HP:0002395 Lower limb hyperreflexia HP:0002396 Cogwheel rigidity HP:0002398 Degeneration of anterior horn cells HP:0002401 Stroke-like episode HP:0002403 Positive Romberg sign HP:0002404 Thickened superior cerebellar peduncle HP:0002406 Limb dysmetria HP:0002408 Cerebral arteriovenous malformation HP:0002410 Aqueductal stenosis HP:0002411 Myokymia HP:0002414 Spina bifida HP:0002415 Leukodystrophy HP:0002416 Subependymal cysts HP:0002418 Abnormality of midbrain morphology HP:0002419 Molar tooth sign on MRI HP:0002421 Poor head control HP:0002423 Long-tract signs HP:0002425 Anarthria HP:0002427 Motor aphasia HP:0002435 Meningocele HP:0002436 Occipital meningocele HP:0002438 Cerebellar malformation HP:0002439 Frontolimbic dementia HP:0002442 Dyscalculia HP:0002444 Hypothalamic hamartoma HP:0002445 Tetraplegia HP:0002446 Astrocytosis HP:0002448 Progressive encephalopathy HP:0002450 Abnormal motor neuron morphology HP:0002451 Limb dystonia HP:0002453 Abnormality of the globus pallidus HP:0002454 Eye of the tiger anomaly of globus pallidus HP:0002457 Abnormal head movements HP:0002459 Dysautonomia HP:0002460 Distal muscle weakness HP:0002461 Dense calcifications in the cerebellar dentate nucleus HP:0002463 Language impairment HP:0002464 Spastic dysarthria HP:0002465 Poor speech HP:0002470 Nonprogressive cerebellar ataxia HP:0002472 Small cerebral cortex HP:0002474 Expressive language delay HP:0002475 Myelomeningocele HP:0002476 Primitive reflex HP:0002478 Progressive spastic quadriplegia HP:0002480 Hepatic encephalopathy HP:0002483 Bulbar signs HP:0002486 Myotonia HP:0002487 Hyperkinesis HP:0002488 Acute leukemia HP:0002490 Increased CSF lactate HP:0002491 Spasticity of facial muscles HP:0002493 Upper motor neuron dysfunction HP:0002494 Abnormal rapid eye movement sleep HP:0002495 Impaired vibratory sensation HP:0002497 Spastic ataxia HP:0002500 Abnormality of the cerebral white matter HP:0002501 Spasticity of pharyngeal muscles HP:0002503 Spinocerebellar tract degeneration HP:0002504 Calcification of the small brain vessels HP:0002505 Progressive inability to walk HP:0002506 Diffuse cerebral atrophy HP:0002507 Semilobar holoprosencephaly HP:0002508 Brainstem dysplasia HP:0002509 Limb hypertonia HP:0002510 Spastic tetraplegia HP:0002511 Alzheimer disease HP:0002512 Brain stem compression HP:0002514 Cerebral calcification HP:0002515 Waddling gait HP:0002516 Increased intracranial pressure HP:0002518 Abnormality of the periventricular white matter HP:0002519 Hypnagogic hallucinations HP:0002521 Hypsarrhythmia HP:0002522 Areflexia of lower limbs HP:0002524 Cataplexy HP:0002526 Deficit in nonword repetition HP:0002527 Falls HP:0002528 Granulovacuolar degeneration HP:0002529 Neuronal loss in central nervous system HP:0002530 Axial dystonia HP:0002533 Abnormal posturing HP:0002536 Abnormal cortical gyration HP:0002538 Abnormality of the cerebral cortex HP:0002539 Cortical dysplasia HP:0002540 Inability to walk HP:0002542 Olivopontocerebellar atrophy HP:0002544 Retrocollis HP:0002545 Patchy demyelination of subcortical white matter HP:0002546 Incomprehensible speech HP:0002548 Parkinsonism with favorable response to dopaminergic medication HP:0002549 Deficit in phonologic short-term memory HP:0002550 Absent facial hair HP:0002552 Trichodysplasia HP:0002553 Highly arched eyebrow HP:0002555 Absent pubic hair HP:0002557 Hypoplastic nipples HP:0002558 Supernumerary nipple HP:0002561 Absent nipple HP:0002562 Low-set nipples HP:0002563 Constrictive pericarditis HP:0002566 Intestinal malrotation HP:0002570 Steatorrhea HP:0002571 Achalasia HP:0002572 Episodic vomiting HP:0002573 Hematochezia HP:0002574 Episodic abdominal pain HP:0002575 Tracheoesophageal fistula HP:0002576 Intussusception HP:0002577 Abnormality of the stomach HP:0002578 Gastroparesis HP:0002579 Gastrointestinal dysmotility HP:0002580 Volvulus HP:0002582 Chronic atrophic gastritis HP:0002584 Intestinal bleeding HP:0002585 Abnormality of the peritoneum HP:0002586 Peritonitis HP:0002587 Projectile vomiting HP:0002588 Duodenal ulcer HP:0002589 Gastrointestinal atresia HP:0002590 Paralytic ileus HP:0002591 Polyphagia HP:0002592 Gastric ulcer HP:0002593 Intestinal lymphangiectasia HP:0002594 Pancreatic hypoplasia HP:0002595 Ileus HP:0002597 Abnormality of the vasculature HP:0002599 Head titubation HP:0002600 Hyporeflexia of lower limbs HP:0002601 Paresis of extensor muscles of the big toe HP:0002604 Gastrointestinal telangiectasia HP:0002605 Hepatic necrosis HP:0002607 Bowel incontinence HP:0002608 Celiac disease HP:0002611 Cholestatic liver disease HP:0002612 Congenital hepatic fibrosis HP:0002613 Biliary cirrhosis HP:0002614 Hepatic periportal necrosis HP:0002615 Hypotension HP:0002616 Aortic root dilatation HP:0002617 Dilatation HP:0002619 Varicose veins HP:0002621 Atherosclerosis HP:0002622 Dissecting aortic dilatation HP:0002623 Overriding aorta HP:0002624 Venous abnormality HP:0002625 Deep venous thrombosis HP:0002626 Venous varicosities of celiac and mesenteric vessels HP:0002627 Right aortic arch with mirror image branching HP:0002629 Gastrointestinal arteriovenous malformation HP:0002630 Fat malabsorption HP:0002631 Dilatation of ascending aorta HP:0002632 Low-to-normal blood pressure HP:0002633 Vasculitis HP:0002634 Arteriosclerosis HP:0002635 Atheromatosis HP:0002636 Dilatation of an abdominal artery HP:0002637 Cerebral ischemia HP:0002638 Superficial thrombophlebitis HP:0002639 Budd-Chiari syndrome HP:0002640 Hypertension associated with pheochromocytoma HP:0002641 Peripheral thrombosis HP:0002642 Arteriovenous fistulas of celiac and mesenteric vessels HP:0002643 Neonatal respiratory distress HP:0002644 Abnormality of pelvic girdle bone morphology HP:0002645 Wormian bones HP:0002647 Aortic dissection HP:0002648 Abnormality of calvarial morphology HP:0002650 Scoliosis HP:0002651 Spondyloepimetaphyseal dysplasia HP:0002652 Skeletal dysplasia HP:0002653 Bone pain HP:0002654 Multiple epiphyseal dysplasia HP:0002655 Spondyloepiphyseal dysplasia HP:0002656 Epiphyseal dysplasia HP:0002657 Spondylometaphyseal dysplasia HP:0002659 Increased susceptibility to fractures HP:0002661 Painless fractures due to injury HP:0002663 Delayed epiphyseal ossification HP:0002664 Neoplasm HP:0002665 Lymphoma HP:0002666 Pheochromocytoma HP:0002667 Nephroblastoma HP:0002668 Paraganglioma HP:0002669 Osteosarcoma HP:0002671 Basal cell carcinoma HP:0002672 Gastrointestinal carcinoma HP:0002673 Coxa valga HP:0002676 Cloverleaf skull HP:0002677 Small foramen magnum HP:0002678 Skull asymmetry HP:0002679 Abnormality of the sella turcica HP:0002680 J-shaped sella turcica HP:0002681 Deformed sella turcica HP:0002682 Broad skull HP:0002684 Thickened calvaria HP:0002686 Prenatal maternal abnormality HP:0002687 Abnormality of frontal sinus HP:0002688 Absent frontal sinuses HP:0002689 Absent paranasal sinuses HP:0002690 Large sella turcica HP:0002691 Platybasia HP:0002692 Hypoplastic facial bones HP:0002693 Abnormality of the skull base HP:0002694 Sclerosis of skull base HP:0002695 Symmetrical, oval parietal bone defects HP:0002696 Abnormality of the parietal bone HP:0002697 Parietal foramina HP:0002699 Abnormality of the foramen magnum HP:0002700 Large foramen magnum HP:0002703 Abnormality of skull ossification HP:0002705 High, narrow palate HP:0002707 Palate telangiectasia HP:0002708 Prominent median palatal raphe HP:0002710 Commissural lip pit HP:0002711 Exaggerated median tongue furrow HP:0002714 Downturned corners of mouth HP:0002715 Abnormality of the immune system HP:0002716 Lymphadenopathy HP:0002717 Adrenal overactivity HP:0002718 Recurrent bacterial infections HP:0002719 Recurrent infections HP:0002720 IgA deficiency HP:0002721 Immunodeficiency HP:0002722 Recurrent abscess formation HP:0002723 Absence of bactericidal oxidative 'respiratory burst' in phagocytes HP:0002724 Recurrent Aspergillus infections HP:0002725 Systemic lupus erythematosus HP:0002726 Recurrent Staphylococcus aureus infections HP:0002728 Chronic mucocutaneous candidiasis HP:0002729 Follicular hyperplasia HP:0002730 Chronic noninfectious lymphadenopathy HP:0002731 Decreased lymphocyte apoptosis HP:0002732 Lymph node hypoplasia HP:0002733 Abnormality of the lymph nodes HP:0002737 Thick skull base HP:0002738 Hypoplastic frontal sinuses HP:0002740 Recurrent E. coli infections HP:0002741 Recurrent Serratia marcescens infections HP:0002742 Recurrent Klebsiella infections HP:0002743 Recurrent enteroviral infections HP:0002744 Bilateral cleft lip and palate HP:0002745 Oral leukoplakia HP:0002747 Respiratory insufficiency due to muscle weakness HP:0002748 Rickets HP:0002749 Osteomalacia HP:0002750 Delayed skeletal maturation HP:0002751 Kyphoscoliosis HP:0002752 Sparse bone trabeculae HP:0002753 Thin bony cortex HP:0002754 Osteomyelitis HP:0002755 Osteomyelitis due to immunodeficiency HP:0002756 Pathologic fracture HP:0002757 Recurrent fractures HP:0002758 Osteoarthritis HP:0002761 Generalized joint laxity HP:0002762 Multiple exostoses HP:0002763 Abnormal cartilage morphology HP:0002764 Stippled chondral calcification HP:0002766 Relatively short spine HP:0002777 Tracheal stenosis HP:0002778 Abnormality of the trachea HP:0002779 Tracheomalacia HP:0002780 Bronchomalacia HP:0002781 Upper airway obstruction HP:0002783 Recurrent lower respiratory tract infections HP:0002786 Tracheobronchomalacia HP:0002787 Tracheal calcification HP:0002788 Recurrent upper respiratory tract infections HP:0002789 Tachypnea HP:0002790 Neonatal breathing dysregulation HP:0002791 Hypoventilation HP:0002792 Reduced vital capacity HP:0002793 Abnormal pattern of respiration HP:0002795 Functional respiratory abnormality HP:0002797 Osteolysis HP:0002803 Congenital contracture HP:0002804 Arthrogryposis multiplex congenita HP:0002805 Accelerated bone age after puberty HP:0002808 Kyphosis HP:0002810 Dumbbell-shaped metaphyses HP:0002812 Coxa vara HP:0002813 Abnormality of limb bone morphology HP:0002814 Abnormality of the lower limb HP:0002815 Abnormality of the knee HP:0002816 Genu recurvatum HP:0002817 Abnormality of the upper limb HP:0002818 Abnormality of the radius HP:0002821 Neuropathic arthropathy HP:0002822 Hyperplasia of the femoral trochanters HP:0002823 Abnormality of femur morphology HP:0002825 Caudal appendage HP:0002826 Halberd-shaped pelvis HP:0002827 Hip dislocation HP:0002828 Multiple joint contractures HP:0002829 Arthralgia HP:0002831 Long coccyx HP:0002832 Calcific stippling HP:0002833 Cystic angiomatosis of bone HP:0002834 Flared femoral metaphysis HP:0002835 Aspiration HP:0002836 Bladder exstrophy HP:0002837 Recurrent bronchitis HP:0002839 Urinary bladder sphincter dysfunction HP:0002840 Lymphadenitis HP:0002841 Recurrent fungal infections HP:0002842 Recurrent Burkholderia cepacia infections HP:0002843 Abnormality of T cells HP:0002845 Increased number of peripheral CD3+ T cells HP:0002846 Abnormality of B cells HP:0002847 Impaired memory B-cell generation HP:0002848 Specific anti-polysaccharide antibody deficiency HP:0002849 Absence of lymph node germinal center HP:0002850 IgM deficiency HP:0002851 Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors HP:0002853 Increased proportion of HLA DR+ and CD57+ T cells HP:0002857 Genu valgum HP:0002858 Meningioma HP:0002859 Rhabdomyosarcoma HP:0002860 Squamous cell carcinoma HP:0002861 Melanoma HP:0002862 Bladder carcinoma HP:0002863 Myelodysplasia HP:0002864 Paraganglioma of head and neck HP:0002865 Medullary thyroid carcinoma HP:0002866 Hypoplastic iliac wing HP:0002867 Abnormality of the ilium HP:0002868 Narrow iliac wings HP:0002869 Flared iliac wings HP:0002870 Obstructive sleep apnea HP:0002871 Central apnea HP:0002872 Apneic episodes precipitated by illness, fatigue, stress HP:0002875 Exertional dyspnea HP:0002876 Episodic tachypnea HP:0002877 Nocturnal hypoventilation HP:0002879 Anisospondyly HP:0002882 Sudden episodic apnea HP:0002883 Hyperventilation HP:0002884 Hepatoblastoma HP:0002885 Medulloblastoma HP:0002886 Vagal paraganglioma HP:0002888 Ependymoma HP:0002890 Thyroid carcinoma HP:0002891 Uterine leiomyosarcoma HP:0002893 Pituitary adenoma HP:0002894 Neoplasm of the pancreas HP:0002895 Papillary thyroid carcinoma HP:0002896 Neoplasm of the liver HP:0002897 Parathyroid adenoma HP:0002898 Embryonal neoplasm HP:0002900 Hypokalemia HP:0002901 Hypocalcemia HP:0002902 Hyponatremia HP:0002904 Hyperbilirubinemia HP:0002905 Hyperphosphatemia HP:0002907 Microscopic hematuria HP:0002908 Conjugated hyperbilirubinemia HP:0002909 Generalized aminoaciduria HP:0002910 Elevated hepatic transaminases HP:0002912 Methylmalonic acidemia HP:0002913 Myoglobinuria HP:0002914 Hyperchloriduria HP:0002916 Abnormality of chromosome segregation HP:0002917 Hypomagnesemia HP:0002918 Hypermagnesemia HP:0002919 Ketonuria HP:0002920 Decreased circulating ACTH level HP:0002921 Abnormality of the cerebrospinal fluid HP:0002922 Increased CSF protein HP:0002923 Rheumatoid factor positive HP:0002924 obsolete Decreased circulating aldosterone level HP:0002925 Increased thyroid-stimulating hormone level HP:0002926 Abnormality of thyroid physiology HP:0002927 Histidinuria HP:0002928 Decreased activity of the pyruvate dehydrogenase complex HP:0002929 Leydig cell insensitivity to gonadotropin HP:0002930 Thyroid hormone receptor defect HP:0002932 Aldehyde oxidase deficiency HP:0002933 Ventral hernia HP:0002936 Distal sensory impairment HP:0002937 Hemivertebrae HP:0002938 Lumbar hyperlordosis HP:0002942 Thoracic kyphosis HP:0002943 Thoracic scoliosis HP:0002944 Thoracolumbar scoliosis HP:0002945 Intervertebral space narrowing HP:0002946 Supernumerary vertebrae HP:0002947 Cervical kyphosis HP:0002948 Vertebral fusion HP:0002949 Fused cervical vertebrae HP:0002951 Partial absence of cerebellar vermis HP:0002953 Vertebral compression fractures HP:0002955 Granulomatosis HP:0002958 Immune dysregulation HP:0002959 Impaired Ig class switch recombination HP:0002960 Autoimmunity HP:0002961 Dysgammaglobulinemia HP:0002963 Abnormal delayed hypersensitivity skin test HP:0002965 Cutaneous anergy HP:0002967 Cubitus valgus HP:0002970 Genu varum HP:0002971 Absent microvilli on the surface of peripheral blood lymphocytes HP:0002972 Reduced delayed hypersensitivity HP:0002973 Abnormality of the forearm HP:0002974 Radioulnar synostosis HP:0002977 Aplasia/Hypoplasia involving the central nervous system HP:0002979 Bowing of the legs HP:0002980 Femoral bowing HP:0002981 Abnormality of the calf HP:0002982 Tibial bowing HP:0002983 Micromelia HP:0002984 Hypoplasia of the radius HP:0002986 Radial bowing HP:0002987 Elbow flexion contracture HP:0002990 Fibular aplasia HP:0002991 Abnormality of fibula morphology HP:0002992 Abnormality of tibia morphology HP:0002996 Limited elbow movement HP:0002997 Abnormality of the ulna HP:0002999 Patellar dislocation HP:0003001 Glomus jugular tumor HP:0003002 Breast carcinoma HP:0003003 Colon cancer HP:0003005 Ganglioneuroma HP:0003006 Neuroblastoma HP:0003009 Enhanced neurotoxicity of vincristine HP:0003010 Prolonged bleeding time HP:0003011 Abnormality of the musculature HP:0003013 Bulging epiphyses HP:0003015 Flared metaphysis HP:0003016 Metaphyseal widening HP:0003019 Abnormality of the wrist HP:0003020 Enlargement of the wrists HP:0003021 Metaphyseal cupping HP:0003022 Hypoplasia of the ulna HP:0003023 Bowing of limbs due to multiple fractures HP:0003025 Metaphyseal irregularity HP:0003026 Short long bone HP:0003027 Mesomelia HP:0003028 Abnormality of the ankles HP:0003029 Enlargement of the ankles HP:0003031 Ulnar bowing HP:0003034 Diaphyseal sclerosis HP:0003037 Enlarged joints HP:0003038 Fibular hypoplasia HP:0003040 Arthropathy HP:0003041 Humeroradial synostosis HP:0003042 Elbow dislocation HP:0003043 Abnormality of the shoulder HP:0003044 Shoulder flexion contracture HP:0003045 Abnormality of the patella HP:0003048 Radial head subluxation HP:0003049 Ulnar deviation of the wrist HP:0003051 Enlarged metaphyses HP:0003053 Epiphyseal deformities of tubular bones HP:0003057 Tetraamelia HP:0003063 Abnormality of the humerus HP:0003065 Patellar hypoplasia HP:0003066 Limited knee extension HP:0003067 Madelung deformity HP:0003068 Madelung-like forearm deformities HP:0003070 Elbow ankylosis HP:0003071 Flattened epiphysis HP:0003072 Hypercalcemia HP:0003073 Hypoalbuminemia HP:0003074 Hyperglycemia HP:0003075 Hypoproteinemia HP:0003076 Glycosuria HP:0003077 Hyperlipidemia HP:0003079 Defective DNA repair after ultraviolet radiation damage HP:0003080 Hydroxyprolinuria HP:0003081 Increased urinary potassium HP:0003083 Dislocated radial head HP:0003084 Fractures of the long bones HP:0003085 Long fibula HP:0003086 Acromesomelia HP:0003088 Premature osteoarthritis HP:0003089 Hamstring contractures HP:0003090 Hypoplasia of the capital femoral epiphysis HP:0003091 Trophic limb changes HP:0003093 Limited hip extension HP:0003095 Septic arthritis HP:0003097 Short femur HP:0003099 Fibular overgrowth HP:0003100 Slender long bone HP:0003102 Increased carrying angle HP:0003103 Abnormal cortical bone morphology HP:0003105 Protuberances at ends of long bones HP:0003106 Subperiosteal bone resorption HP:0003107 Abnormality of cholesterol metabolism HP:0003108 Hyperglycinuria HP:0003109 Hyperphosphaturia HP:0003110 Abnormality of urine homeostasis HP:0003111 Abnormality of ion homeostasis HP:0003112 Abnormality of serum amino acid levels HP:0003113 Hypochloremia HP:0003115 Abnormal EKG HP:0003116 Abnormal echocardiogram HP:0003117 Abnormality of circulating hormone level HP:0003118 Increased circulating cortisol level HP:0003119 Abnormality of lipid metabolism HP:0003121 Limb joint contracture HP:0003124 Hypercholesterolemia HP:0003125 Reduced factor VIII activity HP:0003126 Low-molecular-weight proteinuria HP:0003127 Hypocalciuria HP:0003128 Lactic acidosis HP:0003130 Abnormal peripheral myelination HP:0003131 Cystinuria HP:0003133 Abnormality of the spinocerebellar tracts HP:0003134 Abnormality of peripheral nerve conduction HP:0003137 Prolinuria HP:0003138 Increased blood urea nitrogen HP:0003139 Panhypogammaglobulinemia HP:0003140 T-wave inversion in the right precordial leads HP:0003141 Hyperbetalipoproteinemia HP:0003142 Excessive purine production HP:0003144 Increased serum serotonin HP:0003145 Decreased adenosylcobalamin HP:0003146 Hypocholesterolemia HP:0003148 Elevated serum acid phosphatase HP:0003149 Hyperuricosuria HP:0003150 Glutaric aciduria HP:0003152 Increased serum 1,25-dihydroxyvitamin D3 HP:0003153 Cystathioninuria HP:0003154 Increased circulating ACTH level HP:0003155 Elevated alkaline phosphatase HP:0003158 Hyposthenuria HP:0003159 Hyperoxaluria HP:0003160 Abnormal isoelectric focusing of serum transferrin HP:0003161 4-Hydroxyphenylpyruvic aciduria HP:0003162 Fasting hypoglycemia HP:0003163 Elevated urinary delta-aminolevulinic acid HP:0003164 Hypothalamic gonadotropin-releasing hormone deficiency HP:0003165 Elevated circulating parathyroid hormone level HP:0003166 Increased urinary taurine HP:0003167 Carnosinuria HP:0003168 Dibasicaminoaciduria HP:0003170 Abnormality of the acetabulum HP:0003172 Abnormality of the pubic bone HP:0003173 Hypoplastic pubic bone HP:0003175 Hypoplastic ischia HP:0003177 Squared iliac bones HP:0003179 Protrusio acetabuli HP:0003180 Flat acetabular roof HP:0003182 Shallow acetabular fossae HP:0003183 Wide pubic symphysis HP:0003184 Decreased hip abduction HP:0003185 Short sacroiliac notch HP:0003186 Inverted nipples HP:0003187 Breast hypoplasia HP:0003189 Long nose HP:0003191 Cleft ala nasi HP:0003193 Allergic rhinitis HP:0003194 Short nasal bridge HP:0003196 Short nose HP:0003198 Myopathy HP:0003199 Decreased muscle mass HP:0003200 Ragged-red muscle fibers HP:0003201 Rhabdomyolysis HP:0003202 Skeletal muscle atrophy HP:0003203 Negative nitroblue tetrazolium reduction test HP:0003204 Intracellular accumulation of autofluorescent lipopigment storage material HP:0003205 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material HP:0003206 Decreased activity of NADPH oxidase HP:0003207 Arterial calcification HP:0003208 Fingerprint intracellular accumulation of autofluorescent lipopigment storage material HP:0003209 Decreased pyruvate carboxylase activity HP:0003210 Decreased methylmalonyl-CoA mutase activity HP:0003212 Increased IgE level HP:0003213 Deficient excision of UV-induced pyrimidine dimers in DNA HP:0003214 Prolonged G2 phase of cell cycle HP:0003215 Dicarboxylic aciduria HP:0003216 Generalized amyloid deposition HP:0003217 Hyperglutaminemia HP:0003218 Oroticaciduria HP:0003219 Ethylmalonic aciduria HP:0003220 Abnormality of chromosome stability HP:0003221 Chromosomal breakage induced by crosslinking agents HP:0003223 Decreased methylcobalamin HP:0003224 Increased cellular sensitivity to UV light HP:0003225 Reduced factor V activity HP:0003226 Rectilinear intracellular accumulation of autofluorescent lipopigment storage material HP:0003228 Hypernatremia HP:0003231 Hypertyrosinemia HP:0003232 Mitochondrial malic enzyme reduced HP:0003233 Hypoalphalipoproteinemia HP:0003234 Decreased plasma carnitine HP:0003235 Hypermethioninemia HP:0003236 Elevated serum creatine phosphokinase HP:0003237 Increased IgG level HP:0003238 Hyperpepsinogenemia I HP:0003239 Phosphoethanolaminuria HP:0003241 External genital hypoplasia HP:0003244 Penile hypospadias HP:0003246 Prominent scrotal raphe HP:0003247 Overgrowth of external genitalia HP:0003248 Gonadal tissue inappropriate for external genitalia or chromosomal sex HP:0003249 Genital ulcers HP:0003250 Aplasia of the vagina HP:0003251 Male infertility HP:0003252 Anteriorly displaced genitalia HP:0003254 Abnormality of DNA repair HP:0003256 Abnormality of the coagulation cascade HP:0003258 Glyoxalase deficiency HP:0003259 Elevated serum creatinine HP:0003260 Hydroxyprolinemia HP:0003261 Increased IgA level HP:0003262 Smooth muscle antibody positivity HP:0003264 Deficiency of N-acetylglucosamine-1-phosphotransferase HP:0003265 Neonatal hyperbilirubinemia HP:0003267 Reduced orotidine 5-prime phosphate decarboxylase activity HP:0003268 Argininuria HP:0003269 Sudanophilic leukodystrophy HP:0003270 Abdominal distention HP:0003271 Visceromegaly HP:0003272 Abnormality of the hip bone HP:0003273 Hip contracture HP:0003274 Hypoplastic acetabulae HP:0003275 Narrow pelvis bone HP:0003276 Pelvic bone exostoses HP:0003277 Constricted iliac wings HP:0003278 Square pelvis bone HP:0003279 Coxa magna HP:0003281 Increased serum ferritin HP:0003282 Low alkaline phosphatase HP:0003286 Cystathioninemia HP:0003287 Abnormality of mitochondrial metabolism HP:0003292 Decreased serum leptin HP:0003295 Impaired FSH and LH secretion HP:0003296 Hyperthreoninuria HP:0003297 Hyperlysinuria HP:0003298 Spina bifida occulta HP:0003300 Ovoid vertebral bodies HP:0003301 Irregular vertebral endplates HP:0003302 Spondylolisthesis HP:0003304 Spondylolysis HP:0003305 Block vertebrae HP:0003306 Spinal rigidity HP:0003307 Hyperlordosis HP:0003308 Cervical subluxation HP:0003309 Ovoid thoracolumbar vertebrae HP:0003310 Abnormality of the odontoid process HP:0003311 Hypoplasia of the odontoid process HP:0003312 Abnormal form of the vertebral bodies HP:0003316 Butterfly vertebrae HP:0003318 Cervical spine hypermobility HP:0003319 Abnormality of the cervical spine HP:0003320 C1-C2 subluxation HP:0003321 Biconcave flattened vertebrae HP:0003323 Progressive muscle weakness HP:0003324 Generalized muscle weakness HP:0003325 Limb-girdle muscle weakness HP:0003326 Myalgia HP:0003327 Axial muscle weakness HP:0003329 Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes HP:0003330 Abnormal bone structure HP:0003332 Absent primary metaphyseal spongiosa HP:0003333 Increased serum beta-hexosaminidase HP:0003334 Elevated circulating catecholamine level HP:0003336 Abnormal enchondral ossification HP:0003337 Reduced prothrombin consumption HP:0003338 Focal necrosis of right ventricular muscle cells HP:0003339 Pyrimidine-responsive megaloblastic anemia HP:0003341 Junctional split HP:0003343 Glutathione synthetase deficiency HP:0003344 3-Methylglutaric aciduria HP:0003345 Elevated urinary norepinephrine HP:0003347 Impaired lymphocyte transformation with phytohemagglutinin HP:0003348 Hyperalaninemia HP:0003349 Low cholesterol esterification rates HP:0003351 Decreased circulating renin level HP:0003352 Endopolyploidy on chromosome studies of bone marrow HP:0003353 Propionyl-CoA carboxylase deficiency HP:0003354 Hyperthreoninemia HP:0003355 Aminoaciduria HP:0003357 Thymic hormone decreased HP:0003358 Elevated intracellular cystine HP:0003359 Decreased urinary sulfate HP:0003361 Tryptophanuria HP:0003362 Increased circulating very-low-density lipoprotein cholesterol HP:0003363 Abdominal situs inversus HP:0003365 Arthralgia of the hip HP:0003367 Abnormality of the femoral neck HP:0003368 Abnormality of the femoral head HP:0003370 Flat capital femoral epiphysis HP:0003371 Enlargement of the proximal femoral epiphysis HP:0003375 Narrow greater sacrosciatic notches HP:0003376 Steppage gait HP:0003378 Axonal degeneration/regeneration HP:0003380 Decreased number of peripheral myelinated nerve fibers HP:0003382 Hypertrophic nerve changes HP:0003383 Onion bulb formation HP:0003384 Peripheral axonal atrophy HP:0003387 Decreased number of large peripheral myelinated nerve fibers HP:0003388 Easy fatigability HP:0003390 Sensory axonal neuropathy HP:0003391 Gowers sign HP:0003392 First dorsal interossei muscle weakness HP:0003393 Thenar muscle atrophy HP:0003394 Muscle cramps HP:0003396 Syringomyelia HP:0003397 Generalized hypotonia due to defect at the neuromuscular junction HP:0003398 Abnormal synaptic transmission at the neuromuscular junction HP:0003400 Basal lamina 'onion bulb' formation HP:0003401 Paresthesia HP:0003402 Decreased miniature endplate potentials HP:0003403 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation HP:0003405 Diffuse axonal swelling HP:0003406 Peripheral nerve compression HP:0003409 Distal sensory impairment of all modalities HP:0003411 Proximal femoral metaphyseal irregularity HP:0003413 Atlantoaxial abnormality HP:0003414 Atlantoaxial dislocation HP:0003416 Spinal canal stenosis HP:0003417 Coronal cleft vertebrae HP:0003418 Back pain HP:0003419 Low back pain HP:0003422 Vertebral segmentation defect HP:0003423 Thoracolumbar kyphoscoliosis HP:0003426 First dorsal interossei muscle atrophy HP:0003427 Thenar muscle weakness HP:0003429 CNS hypomyelination HP:0003431 Decreased motor nerve conduction velocity HP:0003434 Sensory ataxic neuropathy HP:0003435 Cold-induced hand cramps HP:0003436 Prolonged miniature endplate currents HP:0003438 Absent Achilles reflex HP:0003440 Horizontal sacrum HP:0003443 Decreased size of nerve terminals HP:0003444 EMG: chronic denervation signs HP:0003445 EMG: neuropathic changes HP:0003447 Axonal loss HP:0003448 Decreased sensory nerve conduction velocity HP:0003449 Cold-induced muscle cramps HP:0003450 Axonal regeneration HP:0003451 Increased rate of premature chromosome condensation HP:0003452 Increased serum iron HP:0003453 Antineutrophil antibody positivity HP:0003454 Platelet antibody positive HP:0003455 Elevated long chain fatty acids HP:0003456 Low urinary cyclic AMP response to PTH administration HP:0003457 EMG abnormality HP:0003458 EMG: myopathic abnormalities HP:0003459 Polyclonal elevation of IgM HP:0003461 Increased urinary O-linked sialopeptides HP:0003462 Elevated 8-dehydrocholesterol HP:0003463 Increased extraneuronal autofluorescent lipopigment HP:0003464 Abnormal cholesterol homeostasis HP:0003465 Elevated 8(9)-cholestenol HP:0003466 Paradoxical increased cortisol secretion on dexamethasone suppression test HP:0003467 Atlantoaxial instability HP:0003468 Abnormality of the vertebrae HP:0003469 Peripheral dysmyelination HP:0003470 Paralysis HP:0003472 Hypocalcemic tetany HP:0003473 Fatigable weakness HP:0003474 Sensory impairment HP:0003477 Peripheral axonal neuropathy HP:0003481 Segmental peripheral demyelination/remyelination HP:0003482 EMG: axonal abnormality HP:0003484 Upper limb muscle weakness HP:0003487 Babinski sign HP:0003489 Acute episodes of neuropathic symptoms HP:0003490 Defective dehydrogenation of isovaleryl CoA and butyryl CoA HP:0003491 Elevated urine pyrophosphate HP:0003492 High urinary gonadotropin level HP:0003493 Antinuclear antibody positivity HP:0003495 GM2-ganglioside accumulation HP:0003496 Increased IgM level HP:0003498 Disproportionate short stature HP:0003502 Mild short stature HP:0003508 Proportionate short stature HP:0003510 Severe short stature HP:0003513 Reduced ratio of renal calcium clearance to creatinine clearance HP:0003514 Deficiency or absence of cytochrome b(-245) HP:0003517 Birth length greater than 97th percentile HP:0003521 Disproportionate short-trunk short stature HP:0003524 Decreased methionine synthase activity HP:0003526 Orotic acid crystalluria HP:0003527 Hyperprostaglandinuria HP:0003528 Elevated calcitonin HP:0003529 Parathormone-independent increased renal tubular calcium reabsorption HP:0003530 Glutaric acidemia HP:0003532 Ornithinuria HP:0003533 Delayed oxidation of acetaldehyde HP:0003534 Reduced xanthine dehydrogenase activity HP:0003535 3-Methylglutaconic aciduria HP:0003536 Decreased fumarate hydratase activity HP:0003537 Hypouricemia HP:0003538 Increased serum iduronate sulfatase activity HP:0003540 Impaired platelet aggregation HP:0003541 Urinary glycosaminoglycan excretion HP:0003542 Increased serum pyruvate HP:0003546 Exercise intolerance HP:0003547 Shoulder girdle muscle weakness HP:0003548 Subsarcolemmal accumulations of abnormally shaped mitochondria HP:0003549 Abnormality of connective tissue HP:0003550 Predominantly lower limb lymphedema HP:0003551 Difficulty climbing stairs HP:0003552 Muscle stiffness HP:0003553 Cellulitis due to immunodeficiency HP:0003554 Type 2 muscle fiber atrophy HP:0003555 Muscle fiber splitting HP:0003557 Increased variability in muscle fiber diameter HP:0003558 Viral infection-induced rhabdomyolysis HP:0003559 Muscle hyperirritability HP:0003560 Muscular dystrophy HP:0003561 Birth length less than 3rd percentile HP:0003562 Abnormal metaphyseal vascular invasion HP:0003563 Hypobetalipoproteinemia HP:0003564 Folate-dependent fragile site at Xq28 HP:0003565 Elevated erythrocyte sedimentation rate HP:0003566 Increased serum prostaglandin E2 HP:0003568 Decreased glucosephosphate isomerase activity HP:0003570 Molybdenum cofactor deficiency HP:0003572 Low plasma citrulline HP:0003573 Increased total bilirubin HP:0003574 Positive regitine blocking test HP:0003575 Increased intracellular sodium HP:0003606 Absent urinary urothione HP:0003607 4-Hydroxyphenylacetic aciduria HP:0003609 Foam cells with lamellar inclusion bodies HP:0003610 Fibroblast metachromasia HP:0003612 Positive ferric chloride test HP:0003613 Antiphospholipid antibody positivity HP:0003614 Trimethylaminuria HP:0003616 Premature separation of centromeric heterochromatin HP:0003634 Amyoplasia HP:0003635 Loss of subcutaneous adipose tissue in limbs HP:0003639 Elevated urinary epinephrine HP:0003640 Foam cells in visceral organs and CNS HP:0003641 Hemoglobinuria HP:0003642 Type I transferrin isoform profile HP:0003643 Sulfite oxidase deficiency HP:0003645 Prolonged partial thromboplastin time HP:0003646 Bicarbonaturia HP:0003647 Electron transfer flavoprotein-ubiquinone oxidoreductase defect HP:0003648 Lacticaciduria HP:0003651 Foam cells HP:0003652 Recurrent myoglobinuria HP:0003653 Cellular metachromasia HP:0003654 Reduced dihydropyrimidine dehydrogenase activity HP:0003655 Reduced activity of N-acetylglucosaminyltransferase II HP:0003656 Decreased beta-glucocerebrosidase protein and activity HP:0003657 Granular osmiophilic deposits (GROD) in cells HP:0003658 Hypomethioninemia HP:0003683 Large beaked nose HP:0003687 Centrally nucleated skeletal muscle fibers HP:0003688 Cytochrome C oxidase-negative muscle fibers HP:0003689 Multiple mitochondrial DNA deletions HP:0003690 Limb muscle weakness HP:0003691 Scapular winging HP:0003693 Distal amyotrophy HP:0003694 Late-onset proximal muscle weakness HP:0003697 Scapuloperoneal amyotrophy HP:0003698 Difficulty standing HP:0003700 Generalized amyotrophy HP:0003701 Proximal muscle weakness HP:0003704 Scapuloperoneal weakness HP:0003707 Calf muscle pseudohypertrophy HP:0003710 Exercise-induced muscle cramps HP:0003712 Skeletal muscle hypertrophy HP:0003713 Muscle fiber necrosis HP:0003715 Myofibrillar myopathy HP:0003716 Generalized muscular appearance from birth HP:0003717 Minimal subcutaneous fat HP:0003719 Muscle mounding HP:0003720 Generalized muscle hypertrophy HP:0003722 Neck flexor weakness HP:0003724 Shoulder girdle muscle atrophy HP:0003725 Firm muscles HP:0003729 Enteroviral dermatomyositis syndrome HP:0003730 EMG: myotonic runs HP:0003731 Quadriceps muscle weakness HP:0003733 Thigh hypertrophy HP:0003736 Autophagic vacuoles HP:0003737 Mitochondrial myopathy HP:0003738 Exercise-induced myalgia HP:0003739 Myoclonic spasms HP:0003740 Myotonia with warm-up phenomenon HP:0003741 Congenital muscular dystrophy HP:0003749 Pelvic girdle muscle weakness HP:0003750 Increased muscle fatiguability HP:0003752 Episodic flaccid weakness HP:0003755 Type 1 fibers relatively smaller than type 2 fibers HP:0003756 Skeletal myopathy HP:0003758 Reduced subcutaneous adipose tissue HP:0003759 Hypoplasia of lymphatic vessels HP:0003760 Percussion-induced rapid rolling muscle contractions HP:0003761 Calcinosis HP:0003762 Uterus didelphys HP:0003763 Bruxism HP:0003764 Nevus HP:0003765 Psoriasiform dermatitis HP:0003768 Periodic paralysis HP:0003771 Pulp stones HP:0003774 Stage 5 chronic kidney disease HP:0003777 Pili torti HP:0003778 Short mandibular rami HP:0003779 Antegonial notching of mandible HP:0003781 Excessive salivation HP:0003782 Eunuchoid habitus HP:0003783 Externally rotated/abducted legs HP:0003784 Type 1 collagen overmodification HP:0003785 Decreased CSF homovanillic acid HP:0003787 Type 1 and type 2 muscle fiber minicore regions HP:0003789 Minicore myopathy HP:0003791 Deposits immunoreactive to beta-amyloid protein HP:0003795 Short middle phalanx of toe HP:0003796 Irregular iliac crest HP:0003797 Limb-girdle muscle atrophy HP:0003798 Nemaline bodies HP:0003799 Marked delay in bone age HP:0003803 Type 1 muscle fiber predominance HP:0003805 Rimmed vacuoles HP:0003808 Abnormal muscle tone HP:0003809 Reduced intrathoracic adipose tissue HP:0003810 Late-onset distal muscle weakness HP:0003811 Neonatal death HP:0003819 Death in childhood HP:0003826 Stillbirth HP:0003834 Shoulder dislocation HP:0003835 Shoulder subluxation HP:0003836 Stippled calcification of the shoulder HP:0003859 Cortical diaphyseal thickening of the upper limbs HP:0003865 Bowed humerus HP:0003868 Humeral cortical thickening HP:0003869 Humeral cortical thinning HP:0003875 Humeral lytic defects HP:0003879 Humeral pseudarthrosis HP:0003881 Humeral sclerosis HP:0003886 Wide humerus HP:0003887 Abnormality of the humeral heads HP:0003888 Flattened humeral heads HP:0003890 Prominent deltoid tuberosities HP:0003909 Cortical subperiosteal resorption of humeral metaphyses HP:0003911 Flared humeral metaphysis HP:0003918 Sclerotic humeral metaphysis HP:0003930 Lytic defects of humeral diaphysis HP:0003931 Periosteal new bone of humeral diaphysis HP:0003940 Osteoarthritis of the elbow HP:0003942 Synovial chondromatosis of the elbow HP:0003943 Abnormality of the joint spaces of the elbow HP:0003946 Abnormality of the epiphyses of the elbow HP:0003950 Flared elbow metaphyses HP:0003951 Distal humeral metaphyseal irregularity HP:0003952 Sclerotic foci of metaphyses of the elbow HP:0003955 Bone-in-a-bone appearance of forearm HP:0003956 Bowed forearm bones HP:0003959 Deformed forearm bones HP:0003961 Fractured forearm bones HP:0003974 Absent radius HP:0003977 Deformed radius HP:0003978 Fractured radius HP:0003980 Pseudarthrosis of the radius HP:0003982 Aplasia of the ulna HP:0003985 Exostoses of the ulna HP:0003987 Fractured ulna HP:0003988 Long ulna HP:0003991 Osteosclerosis of the ulna HP:0003992 Slender ulna HP:0003993 Broad ulna HP:0003994 Dislocated wrist HP:0003995 Abnormality of the radial head HP:0003997 Hypoplastic radial head HP:0004015 Abnormality of radial metaphyses HP:0004018 Flared radial metaphysis HP:0004019 Radial metaphyseal irregularity HP:0004039 Abnormality of ulnar metaphysis HP:0004042 Ulnar metaphyseal irregularity HP:0004050 Absent hand HP:0004054 Sclerosis of hand bone HP:0004057 Mitten deformity HP:0004058 Hand monodactyly HP:0004059 Radial club hand HP:0004060 Trident hand HP:0004097 Deviation of finger HP:0004099 Macrodactyly HP:0004112 Midline nasal groove HP:0004122 Midline defect of the nose HP:0004132 Dimple on nasal tip HP:0004150 Abnormality of the 3rd finger HP:0004180 Short distal phalanx of the 3rd finger HP:0004197 Symphalangism of the 4th finger HP:0004207 Abnormality of the 5th finger HP:0004209 Clinodactyly of the 5th finger HP:0004218 Symphalangism of the 5th finger HP:0004220 Short middle phalanx of the 5th finger HP:0004226 Curved distal phalanx of the 5th finger HP:0004227 Short distal phalanx of the 5th finger HP:0004231 Carpal bone aplasia HP:0004232 Accessory carpal bones HP:0004233 Advanced ossification of carpal bones HP:0004236 Irregular carpal bones HP:0004237 Large carpal bones HP:0004241 Stippled calcification in carpal bones HP:0004251 Lunate-triquetral fusion HP:0004253 Absent trapezium HP:0004268 Osteoarthritis of the small joints of the hand HP:0004277 Fractured hand bones HP:0004279 Short palm HP:0004280 Irregular ossification of hand bones HP:0004283 Narrow palm HP:0004288 Pseudoepiphyses of hand bones HP:0004295 Abnormality of the gastric mucosa HP:0004296 Abnormality of gastrointestinal vasculature HP:0004298 Abnormality of the abdominal wall HP:0004302 Functional motor problems HP:0004303 Abnormality of muscle fibers HP:0004305 Involuntary movements HP:0004306 Abnormality of the endocardium HP:0004308 Ventricular arrhythmia HP:0004309 Ventricular preexcitation HP:0004311 Abnormality of macrophages HP:0004312 Abnormality of reticulocytes HP:0004313 Decreased antibody level in blood HP:0004315 IgG deficiency HP:0004320 Vaginal fistula HP:0004321 Bladder fistula HP:0004322 Short stature HP:0004324 Increased body weight HP:0004325 Decreased body weight HP:0004326 Cachexia HP:0004327 Abnormality of the vitreous humor HP:0004329 Abnormality of the posterior segment of the globe HP:0004330 Increased skull ossification HP:0004331 Decreased skull ossification HP:0004332 Abnormality of lymphocytes HP:0004333 Bone-marrow foam cells HP:0004334 Dermal atrophy HP:0004336 Myelin outfoldings HP:0004337 Abnormality of amino acid metabolism HP:0004340 Abnormality of vitamin B metabolism HP:0004341 Abnormality of vitamin B12 metabolism HP:0004343 Abnormality of glycosphingolipid metabolism HP:0004345 Abnormality of ganglioside metabolism HP:0004348 Abnormality of bone mineral density HP:0004349 Reduced bone mineral density HP:0004352 Abnormality of purine metabolism HP:0004356 Abnormality of lysosomal metabolism HP:0004357 Abnormality of leucine metabolism HP:0004359 Abnormality of fatty-acid metabolism HP:0004361 Abnormality of circulating leptin level HP:0004362 Abnormality of enteric ganglion morphology HP:0004365 Abnormality of tryptophan metabolism HP:0004367 Abnormality of glycoprotein metabolism HP:0004370 Abnormality of temperature regulation HP:0004371 Abnormality of glycosaminoglycan metabolism HP:0004372 Reduced consciousness/confusion HP:0004373 Focal dystonia HP:0004374 Hemiplegia/hemiparesis HP:0004375 Neoplasm of the nervous system HP:0004376 Neuroblastic tumors HP:0004377 Hematological neoplasm HP:0004378 Abnormality of the anus HP:0004379 Abnormality of alkaline phosphatase activity HP:0004380 Aortic valve calcification HP:0004381 Supravalvular aortic stenosis HP:0004382 Mitral valve calcification HP:0004383 Hypoplastic left heart HP:0004384 Type I truncus arteriosus HP:0004385 Protracted diarrhea HP:0004386 Gastrointestinal inflammation HP:0004388 Microcolon HP:0004389 Intestinal pseudo-obstruction HP:0004390 Hamartomatous polyposis HP:0004392 Prune belly HP:0004394 Multiple gastric polyps HP:0004395 Malnutrition HP:0004396 Poor appetite HP:0004397 Ectopic anus HP:0004398 Peptic ulcer HP:0004399 Congenital pyloric atresia HP:0004401 Meconium ileus HP:0004403 Proximal esophageal atresia HP:0004404 Abnormal nipple morphology HP:0004405 Prominent nipples HP:0004406 Spontaneous, recurrent epistaxis HP:0004407 Bony paranasal bossing HP:0004408 Abnormality of the sense of smell HP:0004409 Hyposmia HP:0004411 Deviated nasal septum HP:0004414 Abnormality of the pulmonary artery HP:0004415 Pulmonary artery stenosis HP:0004416 Precocious atherosclerosis HP:0004417 Intermittent claudication HP:0004418 Thrombophlebitis HP:0004419 Recurrent thrombophlebitis HP:0004420 Arterial thrombosis HP:0004421 Elevated systolic blood pressure HP:0004422 Biparietal narrowing HP:0004423 Cranium bifidum occultum HP:0004425 Flat forehead HP:0004428 Elfin facies HP:0004429 Recurrent viral infections HP:0004430 Severe combined immunodeficiency HP:0004431 Complement deficiency HP:0004432 Agammaglobulinemia HP:0004433 Secretory IgA deficiency HP:0004434 C8 deficiency HP:0004437 Cranial hyperostosis HP:0004438 Hyperostosis frontalis interna HP:0004439 Craniofacial dysostosis HP:0004440 Coronal craniosynostosis HP:0004442 Sagittal craniosynostosis HP:0004443 Lambdoidal craniosynostosis HP:0004444 Spherocytosis HP:0004445 Elliptocytosis HP:0004446 Stomatocytosis HP:0004447 Poikilocytosis HP:0004448 Fulminant hepatic failure HP:0004450 Preauricular skin furrow HP:0004451 Postauricular skin tag HP:0004452 Abnormality of the middle ear ossicles HP:0004453 Overfolding of the superior helices HP:0004454 Abnormal middle ear reflexes HP:0004458 Dilatated internal auditory canal HP:0004459 Exostosis of the external auditory canal HP:0004461 Congenital earlobe sinuses HP:0004463 Absent brainstem auditory responses HP:0004464 Postauricular pit HP:0004466 Prolonged brainstem auditory evoked potentials HP:0004467 Preauricular pit HP:0004468 Anomalous tracheal cartilage HP:0004469 Chronic bronchitis HP:0004470 Atretic occipital cephalocele HP:0004471 Aplasia cutis congenita over the scalp vertex HP:0004472 Mandibular hyperostosis HP:0004474 Persistent open anterior fontanelle HP:0004478 Ethmoidal encephalocele HP:0004481 Progressive macrocephaly HP:0004482 Relative macrocephaly HP:0004484 Craniofacial asymmetry HP:0004485 Cessation of head growth HP:0004487 Acrobrachycephaly HP:0004488 Macrocephaly at birth HP:0004490 Calvarial hyperostosis HP:0004491 Large posterior fontanelle HP:0004492 Widely patent fontanelles and sutures HP:0004493 Craniofacial hyperostosis HP:0004495 Thin anteverted nares HP:0004496 Posterior choanal atresia HP:0004499 Chronic rhinitis due to narrow nasal airway HP:0004502 Bilateral choanal atresia HP:0004510 Pancreatic islet-cell hyperplasia HP:0004523 Long eyebrows HP:0004524 Temporal hypotrichosis HP:0004527 Large clumps of pigment irregularly distributed along hair shaft HP:0004528 Generalized hypotrichosis HP:0004529 Atrophic, patchy alopecia HP:0004532 Sacral hypertrichosis HP:0004535 Anterior cervical hypertrichosis HP:0004540 Congenital, generalized hypertrichosis HP:0004544 Pointed frontal hairline HP:0004552 Scarring alopecia of scalp HP:0004554 Generalized hypertrichosis HP:0004557 Anterior vertebral fusion HP:0004558 Cervical platyspondyly HP:0004562 Beaking of vertebral bodies T12-L3 HP:0004565 Severe platyspondyly HP:0004566 Pear-shaped vertebrae HP:0004568 Beaking of vertebral bodies HP:0004570 Increased vertebral height HP:0004571 Widening of cervical spinal canal HP:0004573 Anterior wedging of T11 HP:0004575 Fusion of midcervical facet joints HP:0004576 Sclerotic vertebral endplates HP:0004580 Anterior scalloping of vertebral bodies HP:0004581 Increased anterior vertebral height HP:0004582 Irregularity of vertebral bodies HP:0004586 Biconcave vertebral bodies HP:0004589 Dysplasia of second lumbar vertebra HP:0004590 Hypoplastic sacrum HP:0004591 Disc-like vertebral bodies HP:0004592 Thoracic platyspondyly HP:0004594 Hump-shaped mound of bone in central and posterior portions of vertebral endplate HP:0004598 Supernumerary vertebral ossification centers HP:0004599 Absent or minimally ossified vertebral bodies HP:0004601 Spina bifida occulta at L5 HP:0004602 Cervical C2/C3 vertebral fusion HP:0004603 Hyperconvex vertebral body endplates HP:0004605 Absent vertebral body mineralization HP:0004606 Unossified vertebral bodies HP:0004607 Anterior beaking of lower thoracic vertebrae HP:0004608 Anteriorly placed odontoid process HP:0004609 Patchy distortion of vertebrae HP:0004610 Lumbar spinal canal stenosis HP:0004611 Anterior concavity of thoracic vertebrae HP:0004614 Spina bifida occulta at S1 HP:0004616 Cleft vertebral arch HP:0004617 Butterfly vertebral arch HP:0004618 Sandwich appearance of vertebral bodies HP:0004619 Lumbar kyphoscoliosis HP:0004621 Enlarged vertebral pedicles HP:0004622 Progressive intervertebral space narrowing HP:0004625 Biconvex vertebral bodies HP:0004626 Lumbar scoliosis HP:0004629 Small cervical vertebral bodies HP:0004630 Anterior beaking of thoracic vertebrae HP:0004631 Decreased cervical spine flexion due to contractures of posterior cervical muscles HP:0004632 Cervical segmentation defect HP:0004633 Lower thoracic kyphosis HP:0004634 Cuboid-shaped vertebral bodies HP:0004635 Cervical C5/C6 vertebrae fusion HP:0004637 Decreased cervical spine mobility HP:0004639 Elevated amniotic fluid alpha-fetoprotein HP:0004646 Hypoplasia of the nasal bone HP:0004660 Hypoplasia of facial musculature HP:0004661 Frontalis muscle weakness HP:0004664 Facial midline hemangioma HP:0004673 Decreased facial expression HP:0004676 Prominent supraorbital arches in adult HP:0004679 Large tarsal bones HP:0004681 Deep longitudinal plantar crease HP:0004684 Talipes valgus HP:0004686 Short third metatarsal HP:0004688 Irregular tarsal bones HP:0004689 Short fourth metatarsal HP:0004690 Thickened Achilles tendon HP:0004691 2-3 toe syndactyly HP:0004692 4-5 toe syndactyly HP:0004695 Calcaneal epiphyseal stippling HP:0004696 Talipes cavus equinovarus HP:0004699 Osteoporotic metatarsal HP:0004704 Short fifth metatarsal HP:0004712 Renal malrotation HP:0004713 Reversible renal failure HP:0004717 Axial malrotation of the kidney HP:0004719 Hyperechogenic kidneys HP:0004722 Thickening of the glomerular basement membrane HP:0004724 Calcium nephrolithiasis HP:0004727 Impaired renal concentrating ability HP:0004729 Acute tubulointerstitial nephritis HP:0004732 Impaired renal uric acid clearance HP:0004734 Renal cortical microcysts HP:0004736 Crossed fused renal ectopia HP:0004737 Global glomerulosclerosis HP:0004742 Abnormality of the renal collecting system HP:0004743 Chronic tubulointerstitial nephritis HP:0004746 Glomerular subendothelial electron-dense deposits HP:0004749 Atrial flutter HP:0004751 Paroxysmal ventricular tachycardia HP:0004752 Congenital atrioventricular dissociation HP:0004754 Permanent atrial fibrillation HP:0004755 Supraventricular tachycardia HP:0004756 Ventricular tachycardia HP:0004757 Paroxysmal atrial fibrillation HP:0004758 Effort-induced polymorphic ventricular tachycardias HP:0004759 Nodular calcific aortic valve disease HP:0004760 Congenital septal defect HP:0004761 Post-angioplasty coronary artery restenosis HP:0004762 Hypoplasia of right ventricle HP:0004763 Paroxysmal supraventricular tachycardia HP:0004764 Myxomatous mitral valve degeneration HP:0004768 Sparse anterior scalp hair HP:0004771 Premature graying of body hair HP:0004779 Brittle scalp hair HP:0004780 Elbow hypertrichosis HP:0004783 Duodenal polyposis HP:0004784 Juvenile gastrointestinal polyposis HP:0004785 Malrotation of colon HP:0004786 Jejunal diverticula HP:0004787 Fulminant hepatitis HP:0004788 Intestinal lymphedema HP:0004789 Lactose intolerance HP:0004790 Hypoplasia of the small intestine HP:0004791 Esophageal ulceration HP:0004792 Rectoperineal fistula HP:0004794 Malrotation of small bowel HP:0004795 Hamartomatous stomach polyps HP:0004796 Gastrointestinal obstruction HP:0004797 Multiple small bowel atresias HP:0004798 Recurrent infection of the gastrointestinal tract HP:0004799 Jejunoileal diverticula HP:0004800 Duodenal diverticula HP:0004802 Episodic hemolytic anemia HP:0004804 Congenital hemolytic anemia HP:0004808 Acute myeloid leukemia HP:0004809 Neonatal alloimmune thrombocytopenia HP:0004810 Congenital hypoplastic anemia HP:0004812 Pre-B-cell acute lymphoblastic leukemia HP:0004813 Post-transfusion thrombocytopenia HP:0004814 Fava bean-induced hemolytic anemia HP:0004818 Paroxysmal nocturnal hemoglobinuria HP:0004819 Normocytic hypoplastic anemia HP:0004820 Acute myelomonocytic leukemia HP:0004821 Hypersegmentation of neutrophil nuclei HP:0004822 Atypical elliptocytosis HP:0004823 Anisopoikilocytosis HP:0004825 Increased hemoglobin oxygen affinity HP:0004826 Folate-unresponsive megaloblastic anemia HP:0004828 Refractory anemia with ringed sideroblasts HP:0004831 Recurrent thromboembolism HP:0004835 Microspherocytosis HP:0004836 Acute promyelocytic leukemia HP:0004839 Pyropoikilocytosis HP:0004840 Hypochromic microcytic anemia HP:0004841 Reduced factor XII activity HP:0004844 Coombs-positive hemolytic anemia HP:0004845 Acute monocytic leukemia HP:0004846 Prolonged bleeding after surgery HP:0004848 Ph-positive acute lymphoblastic leukemia HP:0004850 Recurrent deep vein thrombosis HP:0004851 Folate-responsive megaloblastic anemia HP:0004852 Reduced leukocyte alkaline phosphatase HP:0004854 Intermittent thrombocytopenia HP:0004855 Reduced protein S activity HP:0004856 Normochromic microcytic anemia HP:0004857 Hyperchromic macrocytic anemia HP:0004859 Amegakaryocytic thrombocytopenia HP:0004860 Thiamine-responsive megaloblastic anemia HP:0004861 Refractory macrocytic anemia HP:0004863 Compensated hemolytic anemia HP:0004864 Refractory sideroblastic anemia HP:0004866 Impaired ADP-induced platelet aggregation HP:0004870 Chronic hemolytic anemia HP:0004871 Perineal fistula HP:0004872 Incisional hernia HP:0004875 Neonatal inspiratory stridor HP:0004876 Spontaneous neonatal pneumothorax HP:0004878 Intercostal muscle weakness HP:0004879 Intermittent hyperventilation HP:0004880 Respiratory infections in early life HP:0004881 Episodic hypoventilation HP:0004885 Episodic respiratory distress HP:0004886 Congenital laryngeal stridor HP:0004887 Respiratory failure requiring assisted ventilation HP:0004889 Intermittent episodes of respiratory insufficiency due to muscle weakness HP:0004890 Elevated pulmonary artery pressure HP:0004891 Recurrent infections due to aspiration HP:0004894 Laryngotracheal stenosis HP:0004897 Stress/infection-induced lactic acidosis HP:0004898 Persistent lactic acidosis HP:0004900 Severe lactic acidosis HP:0004901 Exercise-induced lactic acidemia HP:0004902 Congenital lactic acidosis HP:0004904 Maturity-onset diabetes of the young HP:0004905 Vitamin A deficiency HP:0004906 Hypernatremic dehydration HP:0004909 Hypokalemic hypochloremic metabolic alkalosis HP:0004910 Bicarbonate-wasting renal tubular acidosis HP:0004911 Episodic metabolic acidosis HP:0004912 Hypophosphatemic rickets HP:0004913 Intermittent lactic acidemia HP:0004915 Impairment of galactose metabolism HP:0004916 Generalized distal tubular acidosis HP:0004918 Hyperchloremic metabolic acidosis HP:0004919 Galactose intolerance HP:0004920 Phenylpyruvic acidemia HP:0004921 Abnormality of magnesium homeostasis HP:0004922 Atypical hyperphenylalaninemia HP:0004923 Hyperphenylalaninemia HP:0004924 Abnormal oral glucose tolerance HP:0004925 Chronic lactic acidosis HP:0004926 Orthostatic hypotension due to autonomic dysfunction HP:0004927 Pulmonary artery dilatation HP:0004928 Peripheral arterial stenosis HP:0004929 Coronary atherosclerosis HP:0004930 Abnormality of the pulmonary vasculature HP:0004931 Arteriosclerosis of small cerebral arteries HP:0004933 Ascending aortic dissection HP:0004934 Vascular calcification HP:0004935 Pulmonary artery atresia HP:0004936 Venous thrombosis HP:0004937 Pulmonary artery aneurysm HP:0004938 Tortuous cerebral arteries HP:0004940 Generalized arterial calcification HP:0004941 Extrahepatic portal hypertension HP:0004942 Aortic aneurysm HP:0004943 Accelerated atherosclerosis HP:0004944 Dilatation of the cerebral artery HP:0004945 Extracranial internal carotid artery dissection HP:0004947 Arteriovenous fistula HP:0004948 Vascular tortuosity HP:0004950 Peripheral arterial disease HP:0004952 Pulmonary arteriovenous fistulas HP:0004953 Dilatation of abdominal aortic HP:0004954 Dilatation of the descending aortic HP:0004955 Generalized arterial tortuosity HP:0004960 Absent pulmonary artery HP:0004961 Pulmonary artery sling HP:0004963 Calcification of the aorta HP:0004964 Pulmonary arterial medial hypertrophy HP:0004966 Medial calcification of large arteries HP:0004968 Recurrent cerebral hemorrhage HP:0004969 Peripheral pulmonary artery stenosis HP:0004970 Ascending aortic dilation HP:0004971 Pulmonary artery hypoplasia HP:0004972 Elevated mean arterial pressure HP:0004974 Coarctation of abdominal aorta HP:0004975 Erlenmeyer flask deformity of the femurs HP:0004976 Knee dislocation HP:0004977 Bilateral radial aplasia HP:0004979 Metaphyseal sclerosis HP:0004980 Metaphyseal rarefaction HP:0004981 Prominent styloid process of ulna HP:0004987 Mesomelic leg shortening HP:0004990 Epiphyseal streaking HP:0004991 Rhizomelic arm shortening HP:0004993 Slender long bones with narrow diaphyses HP:0004997 Multicentric ossification of proximal humeral epiphyses HP:0005001 Recurrent patellar dislocation HP:0005003 Aplasia/Hypoplasia of the capital femoral epiphysis HP:0005004 Flattened proximal radial epiphyses HP:0005005 Femoral bowing present at birth, straightening with time HP:0005008 Large joint dislocations HP:0005009 Dumbbell-shaped humerus HP:0005010 Osteomyelitis leading to amputation due to slow healing fractures HP:0005011 Mesomelic arm shortening HP:0005013 Dysplastic distal radial epiphyses HP:0005017 Polyarticular chondrocalcinosis HP:0005019 Diaphyseal thickening HP:0005021 Bilateral elbow dislocations HP:0005025 Hypoplastic distal humeri HP:0005026 Mesomelic/rhizomelic limb shortening HP:0005028 Widened proximal tibial metaphyses HP:0005033 Distal ulnar hypoplasia HP:0005035 Shortening of all phalanges of the toes HP:0005036 Unilateral ulnar hypoplasia HP:0005037 Proximal radio-ulnar synostosis HP:0005039 Multiple long-bone exostoses HP:0005041 Irregular capital femoral epiphysis HP:0005042 Irregular, rachitic-like metaphyses HP:0005043 Proximal humeral metaphyseal irregularity HP:0005045 Diaphyseal cortical sclerosis HP:0005048 Synostosis of carpal bones HP:0005050 Anterolateral radial head dislocation HP:0005054 Metaphyseal spurs HP:0005059 Arthralgia/arthritis HP:0005060 Limited elbow flexion/extension HP:0005063 Fragmented, irregular epiphyses HP:0005066 Cone-shaped epiphyses fused within their metaphyses HP:0005067 Proximal fibular overgrowth HP:0005068 Absent styloid process of ulna HP:0005069 Rhizo-meso-acromelic limb shortening HP:0005070 Proximal radial head dislocation HP:0005072 Hyperextensibility at wrists HP:0005084 Anterior radial head dislocation HP:0005085 Limited knee flexion/extension HP:0005086 Knee osteoarthritis HP:0005089 Abnormal metaphyseal trabeculation HP:0005090 Lateral femoral bowing HP:0005092 Streaky metaphyseal sclerosis HP:0005093 Absent proximal radial epiphyses HP:0005096 Distal femoral bowing HP:0005099 Severe hydrops fetalis HP:0005100 Premature birth following premature rupture of fetal membranes HP:0005101 High-frequency hearing impairment HP:0005102 Cochlear degeneration HP:0005103 Calcification of the auricular cartilage HP:0005104 Hypoplastic nasal septum HP:0005105 Abnormal nasal morphology HP:0005106 Abnormality of the vertebral endplates HP:0005107 Abnormality of the sacrum HP:0005108 Abnormality of the intervertebral disk HP:0005109 Abnormality of the Achilles tendon HP:0005110 Atrial fibrillation HP:0005111 Dilatation of the ascending aorta HP:0005112 Dilatation of the abdominal aorta HP:0005113 Dilatation of the aortic arch HP:0005115 Supraventricular arrhythmia HP:0005116 Arterial tortuosity HP:0005117 Elevated diastolic blood pressure HP:0005121 Posterior scalloping of vertebral bodies HP:0005129 Congenital hypertrophy of left ventricle HP:0005130 Restrictive heart failure HP:0005132 Pericardial constriction HP:0005133 Right ventricular dilatation HP:0005134 Absence of the pulmonary valve HP:0005135 Abnormal T-wave HP:0005136 Premature calcification of mitral annulus HP:0005141 Episodes of ventricular tachycardia HP:0005143 Anomalous origin of right pulmonary artery from ascending aorta HP:0005144 Left ventricular septal hypertrophy HP:0005145 Coronary artery stenosis HP:0005146 Cardiac valve calcification HP:0005147 Bidirectional ventricular ectopy HP:0005148 Pulmonary valve defects HP:0005150 Abnormal atrioventricular conduction HP:0005151 Preductal coarctation of the aorta HP:0005152 Histiocytoid cardiomyopathy HP:0005155 Ventricular escape rhythms HP:0005156 Hypoplastic left atrium HP:0005157 Concentric hypertrophic cardiomyopathy HP:0005160 Total anomalous pulmonary venous return HP:0005162 Left ventricular failure HP:0005164 Dysplastic pulmonary valve HP:0005165 Shortened PR interval HP:0005168 Elevated right atrial pressure HP:0005170 Complete heart block with broad QRS complexes HP:0005172 Left posterior fascicular block HP:0005173 Calcific aortic valve stenosis HP:0005174 Membranous subvalvular aortic stenosis HP:0005176 Dysplastic aortic valve HP:0005177 Premature arteriosclerosis HP:0005178 Complete heart block with narrow QRS complexes HP:0005180 Tricuspid regurgitation HP:0005181 Premature coronary artery disease HP:0005182 Bicuspid pulmonary valve HP:0005183 Pericardial lymphangiectasia HP:0005184 Prolonged QTc interval HP:0005185 Global systolic dysfunction HP:0005186 Synovial hypertrophy HP:0005187 Progressive joint destruction HP:0005190 Proximal finger joint hyperextensibility HP:0005191 Congenital knee dislocation HP:0005193 Restricted large joint movement HP:0005194 Flattened metatarsal heads HP:0005195 Polyarticular arthropathy HP:0005197 Generalized morning stiffness HP:0005198 Stiff interphalangeal joints HP:0005199 Aplasia of the abdominal wall musculature HP:0005200 Retroperitoneal fibrosis HP:0005201 Anomalous splenoportal venous system HP:0005202 Helicobacter pylori infection HP:0005203 Spontaneous esophageal perforation HP:0005206 Pancreatic pseudocyst HP:0005207 Gastric hypertrophy HP:0005208 Secretory diarrhea HP:0005210 Hypoplastic colon HP:0005211 Midgut malrotation HP:0005212 Anal mucosal leukoplakia HP:0005213 Pancreatic calcification HP:0005214 Intestinal obstruction HP:0005215 Frequent Giardia lamblia infestation HP:0005216 Chewing difficulties HP:0005217 Duplication of internal organs HP:0005218 Anoperineal fistula HP:0005219 Absence of intrinsic factor HP:0005220 Multiple intestinal neurofibromatosis HP:0005222 Bowel diverticulosis HP:0005223 Duplicated colon HP:0005224 Rectal abscess HP:0005225 Intestinal edema HP:0005227 Adenomatous colonic polyposis HP:0005229 Jejunoileal ulceration HP:0005230 Biliary tract obstruction HP:0005231 Chronic gastritis HP:0005232 Pancreatic dysplasia HP:0005233 Hypoplasia of the gallbladder HP:0005234 Neonatal intestinal obstruction HP:0005235 Jejunal atresia HP:0005236 Chronic calcifying pancreatitis HP:0005237 Degenerative liver disease HP:0005238 Discrete intestinal polyps HP:0005240 Esophageal obstruction HP:0005241 Total intestinal aganglionosis HP:0005242 Extrahepatic biliary duct atresia HP:0005243 Partial abdominal muscle agenesis HP:0005244 Gastrointestinal infarctions HP:0005245 Intestinal hypoplasia HP:0005246 Giant hypertrophic gastritis HP:0005247 Hypoplasia of the abdominal wall musculature HP:0005248 Intrahepatic biliary atresia HP:0005249 Functional intestinal obstruction HP:0005250 High intestinal obstruction HP:0005253 Increased anterioposterior diameter of thorax HP:0005254 Unilateral chest hypoplasia HP:0005255 Absence of pectoralis minor muscle HP:0005256 Unilateral absence of pectoralis major muscle HP:0005257 Thoracic hypoplasia HP:0005258 Pectoral muscle hypoplasia/aplasia HP:0005259 Abnormal facility in opposing the shoulders HP:0005261 Joint hemorrhage HP:0005263 Gastritis HP:0005264 Abnormality of the gallbladder HP:0005265 Abnormality of the jejunum HP:0005266 Intestinal polyp HP:0005267 Premature delivery because of cervical insufficiency or membrane fragility HP:0005268 Spontaneous abortion HP:0005272 Prominent nasolabial fold HP:0005273 Absent nasal septal cartilage HP:0005274 Prominent nasal tip HP:0005275 Cartilaginous ossification of nose HP:0005278 Hypoplastic nasal tip HP:0005280 Depressed nasal bridge HP:0005281 Hypoplastic nasal bridge HP:0005285 Absent nasal bridge HP:0005288 Abnormality of the nares HP:0005290 Internal carotid artery hypoplasia HP:0005291 Inflammatory arteriopathy HP:0005292 Intimal thickening in the coronary arteries HP:0005293 Venous insufficiency HP:0005294 Arterial dissection HP:0005295 Pseudocoarctation of the aorta HP:0005297 Premature occlusive vascular disease HP:0005298 Atrioventricular canal defect with right ventricle aorta and pulmonary atresia HP:0005300 Nodular inflammatory vasculitis HP:0005301 Persistent left superior vena cava HP:0005302 Carotid artery tortuosity HP:0005303 Aortic arch calcification HP:0005304 Hypoplastic pulmonary veins HP:0005305 Cerebral venous thrombosis HP:0005306 Capillary hemangiomas HP:0005307 Postural hypotension with compensatory tachycardia HP:0005308 Pulmonary artery vasoconstriction HP:0005310 Large vessel vasculitis HP:0005311 Agenesis of pulmonary vessels HP:0005312 Pulmonary aterial intimal fibrosis HP:0005313 Arterial fibromuscular dysplasia HP:0005314 Anomalous branches of internal carotid artery HP:0005315 Peripheral artery occlusive disease HP:0005316 Peripheral pulmonary vessel aplasia HP:0005317 Increased pulmonary vascular resistance HP:0005318 Cerebral vasculitis HP:0005320 Lack of facial subcutaneous fat HP:0005321 Mandibulofacial dysostosis HP:0005322 Prominent nasal septum HP:0005323 Hemifacial hypertrophy HP:0005324 Disturbance of facial expression HP:0005325 Extension of hair growth on temples to lateral eyebrow HP:0005326 Hypoplastic philtrum HP:0005327 Loss of facial expression HP:0005328 Progeroid facial appearance HP:0005329 Fixed facial expression HP:0005332 Recurrent mandibular subluxations HP:0005335 Sleepy facial expression HP:0005336 Forehead hyperpigmentation HP:0005338 Sparse lateral eyebrow HP:0005339 Abnormality of complement system HP:0005340 Spastic/hyperactive bladder HP:0005341 Autonomic bladder dysfunction HP:0005343 Hypoplasia of the bladder HP:0005344 Abnormality of the carotid arteries HP:0005345 Abnormality of the vena cava HP:0005346 Abnormal facial expression HP:0005347 Cartilaginous trachea HP:0005348 Inspiratory stridor HP:0005349 Hypoplasia of the epiglottis HP:0005352 Severe T-cell immunodeficiency HP:0005353 Susceptibility to herpesvirus HP:0005354 Absent cellular immunity HP:0005356 Decreased serum complement factor I HP:0005357 Defective B cell differentiation HP:0005359 Aplasia of the thymus HP:0005360 Susceptibility to chickenpox HP:0005363 Partial humoral immunodeficiency HP:0005364 Severe viral infections HP:0005365 Severe B lymphocytopenia HP:0005366 Recurrent streptococcus pneumoniae infections HP:0005368 Abnormality of humoral immunity HP:0005369 Decreased serum complement factor H HP:0005374 Cellular immunodeficiency HP:0005375 Partial cellular immunodeficiency HP:0005376 Recurrent Haemophilus influenzae infections HP:0005379 Severe T lymphocytopenia HP:0005381 Recurrent meningococcal disease HP:0005384 Defective B cell activation HP:0005386 Recurrent protozoan infections HP:0005387 Combined immunodeficiency HP:0005389 Depletion of components of the alternative complement pathway HP:0005390 Recurrent opportunistic infections HP:0005396 Susceptibility to coronavirus 229e HP:0005397 Exaggerated cellular immune processes HP:0005400 Reduction of neutrophil motility HP:0005401 Recurrent candida infections HP:0005402 Primary T-lymphocyte immune abnormalities HP:0005403 Decrease in T cell count HP:0005404 Increase in B cell number HP:0005406 Recurrent bacterial skin infections HP:0005407 Decreased number of CD4+ T cells HP:0005409 Markedly reduced T cell function HP:0005411 Chronic intestinal candidiasis HP:0005413 Increased alpha-globulin HP:0005415 Decreased number of CD8+ T cells HP:0005416 Decreased serum complement factor B HP:0005419 Decreased T cell activation HP:0005420 Recurrent gram-negative bacterial infections HP:0005421 Decreased serum complement C3 HP:0005422 Absence of CD8+ T cells HP:0005423 Dysfunctional alternative complement pathway HP:0005424 Absent specific antibody response HP:0005425 Recurrent sinopulmonary infections HP:0005428 Severe recurrent varicella HP:0005429 Recurrent systemic pyogenic infections HP:0005430 Recurrent Neisserial infections HP:0005432 Transient hypogammaglobulinemia of infancy HP:0005435 Impaired T cell function HP:0005437 Recurrent infections in infancy and early childhood HP:0005439 Maxillozygomatic hypoplasia HP:0005441 Sclerotic cranial sutures HP:0005442 Widely patent coronal suture HP:0005445 Widened posterior fossa HP:0005446 Obtuse angle of mandible HP:0005449 Bridged sella turcica HP:0005450 Calvarial osteosclerosis HP:0005451 Decreased cranial base ossification HP:0005453 Absent/hypoplastic paranasal sinuses HP:0005456 Absent ethmoidal sinuses HP:0005458 Premature closure of fontanelles HP:0005461 Craniofacial disproportion HP:0005462 Calcification of falx cerebri HP:0005463 Elongated sella turcica HP:0005464 Craniofacial osteosclerosis HP:0005465 Facial hyperostosis HP:0005466 Hypoplasia of the frontal bone HP:0005469 Flat occiput HP:0005472 Orbital craniosynostosis HP:0005473 Fusion of middle ear ossicles HP:0005474 Decreased calvarial ossification HP:0005476 Widely patent sagittal suture HP:0005477 Progressive sclerosis of skull base HP:0005478 Prominent frontal sinuses HP:0005479 IgE deficiency HP:0005482 Abnormality of the alternative complement pathway HP:0005484 Postnatal microcephaly HP:0005486 Small fontanelle HP:0005487 Prominent metopic ridge HP:0005490 Postnatal macrocephaly HP:0005494 Premature posterior fontanelle closure HP:0005495 Metopic suture patent to nasal root HP:0005498 Midline skin dimples over anterior/posterior fontanelles HP:0005502 Increased red cell osmotic fragility HP:0005505 Refractory anemia HP:0005506 Chronic myelogenous leukemia HP:0005507 Hemoglobin Barts HP:0005508 Monoclonal immunoglobulin M proteinemia HP:0005510 Transient erythroblastopenia HP:0005511 Heinz body anemia HP:0005512 Impaired neutrophil killing of staphylococci HP:0005513 Increased megakaryocyte count HP:0005517 T-cell lymphoma/leukemia HP:0005518 Increased mean corpuscular volume HP:0005520 Chronic disseminated intravascular coagulation HP:0005521 Disseminated intravascular coagulation HP:0005522 Pyridoxine-responsive sideroblastic anemia HP:0005523 Lymphoproliferative disorder HP:0005524 Macrocytic hemolytic disease HP:0005525 Spontaneous hemolytic crises HP:0005526 Lymphoid leukemia HP:0005527 Reduced kininogen activity HP:0005528 Bone marrow hypocellularity HP:0005531 Biphenotypic acute leukaemia HP:0005532 Macrocytic dyserythropoietic anemia HP:0005534 Transient myeloproliferative syndrome HP:0005535 Exercise-induced hemolysis HP:0005537 Decreased mean platelet volume HP:0005540 Red blood cell keratocytosis HP:0005541 Congenital agranulocytosis HP:0005542 Prolonged whole-blood clotting time HP:0005543 Reduced protein C activity HP:0005546 Increased red cell osmotic resistance HP:0005547 Myeloproliferative disorder HP:0005548 Megakaryocytopenia HP:0005549 Congenital neutropenia HP:0005550 Chronic lymphatic leukemia HP:0005558 Chronic leukemia HP:0005560 Imbalanced hemoglobin synthesis HP:0005561 Abnormality of bone marrow cell morphology HP:0005562 Multiple renal cysts HP:0005563 Decreased numbers of nephrons HP:0005564 Absence of renal corticomedullary differentiation HP:0005565 Reduced renal corticomedullary differentiation HP:0005567 Renal magnesium wasting HP:0005571 Increased renal tubular phosphate reabsorption HP:0005572 Decreased renal tubular phosphate excretion HP:0005574 Non-acidotic proximal tubulopathy HP:0005575 Hemolytic-uremic syndrome HP:0005576 Tubulointerstitial fibrosis HP:0005579 Impaired reabsorption of chloride HP:0005580 Duplication of renal pelvis HP:0005583 Tubular basement membrane disintegration HP:0005584 Renal cell carcinoma HP:0005585 Spotty hyperpigmentation HP:0005586 Hyperpigmentation in sun-exposed areas HP:0005587 Profuse pigmented skin lesions HP:0005588 Patchy palmoplantar keratoderma HP:0005590 Spotty hypopigmentation HP:0005592 Giant melanosomes in melanocytes HP:0005593 Macular hypopigmented whorls, streaks, and patches HP:0005595 Generalized hyperkeratosis HP:0005597 Congenital alopecia totalis HP:0005598 Facial telangiectasia in butterfly midface distribution HP:0005599 Hypopigmentation of hair HP:0005600 Congenital giant melanocytic nevus HP:0005602 Progressive vitiligo HP:0005603 Numerous congenital melanocytic nevi HP:0005605 Large cafe-au-lait macules with irregular margins HP:0005606 Hyperpigmented nevi and streak HP:0005607 Abnormality of the tracheobronchial system HP:0005608 Bilobate gallbladder HP:0005609 Gallbladder dysfunction HP:0005612 Arthrogryposis-like hand anomaly HP:0005613 Aplasia/hypoplasia of the femur HP:0005616 Accelerated skeletal maturation HP:0005617 Bilateral camptodactyly HP:0005619 Thoracolumbar kyphosis HP:0005620 Hypermobility of interphalangeal joints HP:0005621 Trapezoidal shaped vertebral bodies HP:0005622 Broad long bones HP:0005623 Absent ossification of calvaria HP:0005625 Osteoporosis of vertebrae HP:0005626 Posterior fusion of lumbosacral vertebrae HP:0005627 Type D brachydactyly HP:0005632 Absent forearm HP:0005638 Decreased anterioposterior diameter of lumbar vertebral bodies HP:0005639 Hyperextensible hand joints HP:0005640 Abnormal vertebral segmentation and fusion HP:0005643 Short 3rd toe HP:0005645 Intervertebral disk calcification HP:0005648 Bilateral ulnar hypoplasia HP:0005650 Cutaneous syndactyly between fingers 2 and 5 HP:0005652 Cortical sclerosis HP:0005653 Moderate generalized osteoporosis HP:0005655 Multiple digital exostoses HP:0005656 Positional foot deformity HP:0005659 Thoracic kyphoscoliosis HP:0005661 Salmonella osteomyelitis HP:0005665 Massively thickened long bone cortices HP:0005667 Os odontoideum HP:0005671 Bilateral intracranial calcifications HP:0005676 Rudimentary postaxial polydactyly of hands HP:0005678 Anterior atlanto-occipital dislocation HP:0005679 Dupuytren contracture HP:0005680 Tongue-like lumbar vertebral deformities HP:0005681 Juvenile rheumatoid arthritis HP:0005682 Talocalcaneal synostosis HP:0005684 Distal arthrogryposis HP:0005686 Patchy osteosclerosis HP:0005687 Deformed humeral heads HP:0005688 Dysplastic distal thumb phalanges with a central hole HP:0005689 Dermatoglyphic ridges abnormal HP:0005692 Joint hyperflexibility HP:0005694 Partial fusion of proximal row of carpal bones HP:0005696 Postaxial polydactyly type A HP:0005700 Increased bone density with cystic changes HP:0005701 Multiple enchondromatosis HP:0005707 Bilateral triphalangeal thumbs HP:0005709 2-3 toe cutaneous syndactyly HP:0005715 Flattened knee epiphyses HP:0005716 Lethal skeletal dysplasia HP:0005720 Shortening of all metacarpals HP:0005722 Hyperextensible thumb HP:0005723 Shoe-shaped sella turcica HP:0005725 Nonopposable triphalangeal thumb HP:0005726 Thumbs hypoplastic with bulbous tips HP:0005731 Cortical irregularity HP:0005733 Spinal stenosis with reduced interpedicular distance HP:0005736 Short tibia HP:0005739 Posterior subluxation of radial head HP:0005743 Avascular necrosis of the capital femoral epiphysis HP:0005745 Congenital foot contractures HP:0005746 Osteosclerosis of the base of the skull HP:0005747 Easily subluxated first metacarpophalangeal joints HP:0005750 Contractures of the joints of the lower limbs HP:0005752 Flattened moderately deformed vertebrae HP:0005756 Neonatal epiphyseal stippling HP:0005758 Basilar impression HP:0005759 Small flat posterior fossa HP:0005764 Polyarticular arthritis HP:0005765 Sacral meningocele HP:0005766 Disproportionate shortening of the tibia HP:0005767 1-2 toe complete cutaneous syndactyly HP:0005768 2-4 toe cutaneous syndactyly HP:0005769 Fifth finger distal phalanx clinodactyly HP:0005772 Aplasia/Hypoplasia of the tibia HP:0005773 Short forearm HP:0005775 Multiple skeletal anomalies HP:0005776 Carpal bone malsegmentation HP:0005780 Absent fourth finger distal interphalangeal crease HP:0005781 Contractures of the large joints HP:0005787 Lumbar platyspondyly HP:0005788 Abnormal cervical myelogram HP:0005789 Generalized osteosclerosis HP:0005790 Short mandibular condyles HP:0005791 Cortical thickening of long bone diaphyses HP:0005792 Short humerus HP:0005793 Shortening of all distal phalanges of the toes HP:0005794 Arterial disease of legs HP:0005798 Posterior radial head dislocation HP:0005802 Coalescence of tarsal bones HP:0005807 Absent distal phalanges HP:0005815 Supernumerary ribs HP:0005817 Postaxial polysyndactyly of foot HP:0005819 Short middle phalanx of finger HP:0005820 Superior rib anomalies HP:0005824 Clinodactyly of the 2nd toe HP:0005825 Mixed sclerosis of humeral metaphyses HP:0005828 Transient pulmonary infiltrates HP:0005829 Maldevelopment of radioulnar joint HP:0005830 Flexion contracture of toe HP:0005831 Type B brachydactyly HP:0005832 Dysharmonic delayed bone age HP:0005841 Calcific stippling of infantile cartilaginous skeleton HP:0005844 Rounded middle phalanx of finger HP:0005848 Bifid thumb distal phalanx HP:0005849 Diffuse cerebral calcification HP:0005850 Congenital talipes calcaneovalgus HP:0005852 Limited elbow extension and supination HP:0005853 Congenital foot contraction deformities HP:0005855 Multiple prenatal fractures HP:0005856 Ulnar radial head dislocation HP:0005857 Cervical spina bifida HP:0005863 Type E brachydactyly HP:0005864 Pseudoarthrosis HP:0005866 Opposable triphalangeal thumb HP:0005867 Fused fourth and fifth metacarpals HP:0005868 Metaphyseal enchondromatosis HP:0005871 Metaphyseal chondrodysplasia HP:0005872 Brachytelomesophalangy HP:0005873 Polysyndactyly of hallux HP:0005875 Increased dermatoglyphic whorls HP:0005876 Progressive flexion contractures HP:0005877 Multiple small vertebral fractures HP:0005878 Enlarged sagittal diameter of the cervical canal HP:0005879 Congenital finger flexion contractures HP:0005880 Metacarpophalangeal synostosis HP:0005881 Spinal instability HP:0005882 Dermatoglyphic variants HP:0005885 Absent ossification of cervical vertebral bodies HP:0005886 Aphalangy of the hands HP:0005890 Hyperostosis cranialis interna HP:0005891 Progressive forearm bowing HP:0005892 Proximal tibial and fibular fusion HP:0005894 Double first metacarpals HP:0005895 Radial deviation of thumb terminal phalanx HP:0005897 Severe generalized osteoporosis HP:0005899 Metaphyseal dysostosis HP:0005900 Fifth metacarpal with ulnar notch HP:0005901 Chronic recurrent multifocal osteomyelitis HP:0005905 Abnormal cervical curvature HP:0005906 Delayed pneumatization of the mastoid process HP:0005910 Rhomboid or triangular shaped 5th finger middle phalanx HP:0005912 Biliary atresia HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones HP:0005916 Abnormal metacarpal morphology HP:0005917 Supernumerary metacarpal bones HP:0005922 Abnormal hand morphology HP:0005930 Abnormality of epiphysis morphology HP:0005932 Abnormal renal corticomedullary differentiation HP:0005938 Abnormal respiratory motile cilium morphology HP:0005939 Multiple bilateral pneumothoraces HP:0005941 Intermittent hyperpnea at rest HP:0005942 Desquamative interstitial pneumonitis HP:0005943 Respiratory arrest HP:0005944 Bilateral lung agenesis HP:0005945 Laryngeal obstruction HP:0005946 Ventilator dependence with inability to wean HP:0005947 Decreased sensitivity to hypoxemia HP:0005948 Cystic lung disease HP:0005949 Apneic episodes in infancy HP:0005950 Laryngeal web HP:0005951 Progressive inspiratory stridor HP:0005952 Decreased pulmonary function HP:0005954 Pulmonary capillary hemangiomatosis HP:0005956 Anteroposteriorly shortened larynx HP:0005957 Breathing dysregulation HP:0005959 Impaired gluconeogenesis HP:0005961 Hypoargininemia HP:0005964 Intermittent hypothermia HP:0005967 Mixed respiratory and metabolic acidosis HP:0005968 Temperature instability HP:0005972 Respiratory acidosis HP:0005973 Fructose intolerance HP:0005974 Episodic ketoacidosis HP:0005976 Hyperkalemic metabolic acidosis HP:0005977 Hypochloremic metabolic alkalosis HP:0005978 Type II diabetes mellitus HP:0005979 Metabolic ketoacidosis HP:0005982 Reduced phenylalanine hydroxylase activity HP:0005984 Elevated maternal serum alpha-fetoprotein HP:0005986 Limitation of neck motion HP:0005987 Multinodular goiter HP:0005988 Congenital muscular torticollis HP:0005989 Redundant neck skin HP:0005990 Thyroid hypoplasia HP:0005991 Limited neck flexion HP:0005994 Nodular goiter HP:0005995 Decreased adipose tissue around neck HP:0005997 Restricted neck movement due to contractures HP:0005999 Ureteral atresia HP:0006000 Ureteral obstruction HP:0006006 Hypotrophy of the small hand muscles HP:0006008 Unilateral brachydactyly HP:0006009 Broad phalanx HP:0006011 Cuboidal metacarpal HP:0006012 Widened metacarpal shaft HP:0006014 Abnormally shaped carpal bones HP:0006016 Delayed phalangeal epiphyseal ossification HP:0006019 Reduced proximal interphalangeal joint space HP:0006026 Rounded epiphyses HP:0006028 Metaphyseal cupping of metacarpals HP:0006035 Cone-shaped epiphyses of phalanges 2 to 5 HP:0006040 Long second metacarpal HP:0006042 Y-shaped metacarpals HP:0006045 Short pointed phalanges HP:0006048 Distal widening of metacarpals HP:0006051 Metacarpal periosteal thickening HP:0006055 Ulnar deviated club hands HP:0006059 Cone-shaped metacarpal epiphyses HP:0006060 Tombstone-shaped proximal phalanges HP:0006064 Limited interphalangeal movement HP:0006067 Multiple carpal ossification centers HP:0006069 Severe carpal ossification delay HP:0006070 Metacarpophalangeal joint contracture HP:0006077 Absent proximal finger flexion creases HP:0006086 Thin metacarpal cortices HP:0006088 1-5 finger complete cutaneous syndactyly HP:0006089 Palmar hyperhidrosis HP:0006092 Malaligned carpal bone HP:0006094 Finger joint hypermobility HP:0006095 Wide tufts of distal phalanges HP:0006097 3-4 finger syndactyly HP:0006099 Metacarpophalangeal joint hyperextensibility HP:0006101 Finger syndactyly HP:0006106 Absent trapezoid bone HP:0006107 Fingerpad telangiectases HP:0006108 Tapered metacarpals HP:0006109 Absent phalangeal crease HP:0006110 Shortening of all middle phalanges of the fingers HP:0006112 Expanded phalanges with widened medullary cavities HP:0006114 Multiple palmar creases HP:0006118 Shortening of all distal phalanges of the fingers HP:0006119 Proximal tapering of metacarpals HP:0006121 Acral ulceration leading to autoamputation of digits HP:0006127 Long proximal phalanx of finger HP:0006129 Drumstick terminal phalanges HP:0006134 Enlarged metacarpal epiphyses HP:0006135 Decreased finger mobility HP:0006136 Bilateral postaxial polydactyly HP:0006140 Premature fusion of phalangeal epiphyses HP:0006143 Abnormal finger flexion creases HP:0006144 Shortening of all proximal phalanges of the fingers HP:0006145 Central Y-shaped metacarpal HP:0006146 Broad metacarpal epiphyses HP:0006147 Progressive fusion 2nd-5th pip joints HP:0006149 Increased laxity of fingers HP:0006150 Swan neck-like deformities of the fingers HP:0006152 Proximal symphalangism of hands HP:0006153 Disharmonious carpal bone HP:0006155 Long phalanx of finger HP:0006156 Ulnar deviation of thumb HP:0006157 Prominent palmar flexion creases HP:0006159 Mesoaxial hand polydactyly HP:0006160 Irregular metacarpals HP:0006161 Short metacarpals with rounded proximal ends HP:0006162 Soft tissue swelling of interphalangeal joints HP:0006163 Enlarged metacarpophalangeal joints HP:0006165 Proportionate shortening of all digits HP:0006166 Tubular metacarpal bones HP:0006167 Prominent proximal interphalangeal joints HP:0006169 Decreased mobility 3rd-5th fingers HP:0006170 Chess-pawn distal phalanges HP:0006172 Flattened, squared-off epiphyses of tubular bones HP:0006174 Metacarpal diaphyseal endosteal sclerosis HP:0006175 Proximal phalangeal periosteal thickening HP:0006179 Pseudoepiphyses of second metacarpal HP:0006180 Crowded carpal bones HP:0006184 Decreased palmar creases HP:0006185 Enlarged proximal interphalangeal joints HP:0006187 Fusion of midphalangeal joints HP:0006189 Prominent interdigital folds HP:0006190 Radially deviated wrists HP:0006191 Deep palmar crease HP:0006192 Tapered phalanx of finger HP:0006193 Thimble-shaped middle phalanges of hand HP:0006200 Widened distal phalanges HP:0006201 Hypermobility of distal interphalangeal joints HP:0006202 Osteolysis of scaphoids HP:0006203 Decreased movement range in interphalangeal joints HP:0006205 Irregular phalanges HP:0006206 Hypersegmentation of proximal phalanx of second finger HP:0006207 Partial fusion of carpals HP:0006208 Metaphyseal cupping of proximal phalanges HP:0006209 Partial-complete absence of 5th phalanges HP:0006210 Postaxial oligodactyly HP:0006213 Thin proximal phalanges with broad epiphyses of the hand HP:0006216 Single interphalangeal crease of fifth finger HP:0006217 Limited mobility of proximal interphalangeal joint HP:0006224 Tapering pointed ends of distal finger phalanges HP:0006226 Osteoarthritis of the first carpometacarpal joint HP:0006228 Valgus hand deformity HP:0006230 Unilateral oligodactyly HP:0006232 Expanded metacarpals with widened medullary cavities HP:0006233 Osteoarthritis of the distal interphalangeal joint HP:0006234 Osteolysis involving tarsal bones HP:0006236 Slender metacarpals HP:0006237 Prominent interphalangeal joints HP:0006239 Shortening of all middle phalanges of the toes HP:0006243 Phalangeal dislocation HP:0006247 Enlarged interphalangeal joints HP:0006248 Limited wrist movement HP:0006251 Limited wrist extension HP:0006252 Interphalangeal joint erosions HP:0006253 Swelling of proximal interphalangeal joints HP:0006254 Elevated alpha-fetoprotein HP:0006256 Abnormality of hand joint mobility HP:0006262 Aplasia/Hypoplasia of the 5th finger HP:0006265 Aplasia/Hypoplasia of fingers HP:0006266 Small placenta HP:0006267 Large placenta HP:0006268 Fluctuating splenomegaly HP:0006270 Hypoplastic spleen HP:0006273 Pancreatic lymphangiectasis HP:0006274 Reduced pancreatic beta cells HP:0006276 Hyperechogenic pancreas HP:0006277 Pancreatic hyperplasia HP:0006278 Ectopic pancreatic tissue HP:0006279 Beta-cell dysfunction HP:0006280 Chronic pancreatitis HP:0006282 Generalized hypoplasia of dental enamel HP:0006283 Multiple unerupted teeth HP:0006285 Hypomineralization of enamel HP:0006286 Yellow-brown discoloration of the teeth HP:0006288 Advanced eruption of teeth HP:0006289 Agenesis of central incisor HP:0006290 Discolored lateral incisors HP:0006291 Marked delay in eruption of permanent teeth HP:0006292 Abnormality of dental eruption HP:0006293 Agenesis of maxillary central incisor HP:0006297 Hypoplasia of dental enamel HP:0006298 Prolonged bleeding after dental extraction HP:0006302 Dagger-shaped pulp calcifications HP:0006304 Widely-spaced incisors HP:0006308 Atrophy of alveolar ridges HP:0006311 Generalized microdontia HP:0006313 Widely spaced primary teeth HP:0006315 Single median maxillary incisor HP:0006316 Irregularly spaced teeth HP:0006321 Multiple non-erupting secondary teeth HP:0006323 Premature loss of primary teeth HP:0006329 Alveolar process hypoplasia HP:0006330 Rotated maxillary central incisors HP:0006332 Supernumerary maxillary incisor HP:0006333 Crowded maxillary incisors HP:0006334 Hypoplasia of the primary teeth HP:0006335 Persistence of primary teeth HP:0006336 Short dental roots HP:0006337 Premature eruption of permanent teeth HP:0006339 Conical mandibular incisor HP:0006342 Peg-shaped maxillary lateral incisors HP:0006344 Abnormality of primary molar morphology HP:0006346 Screwdriver-shaped incisors HP:0006347 Microdontia of primary teeth HP:0006349 Agenesis of permanent teeth HP:0006350 Obliteration of the pulp chamber HP:0006352 Failure of eruption of permanent teeth HP:0006353 Hypoplasia of the tooth germ HP:0006355 Agenesis of mandibular central incisor HP:0006357 Premature loss of permanent teeth HP:0006358 Shovel-shaped maxillary central incisors HP:0006361 Irregular femoral epiphysis HP:0006362 Varus deformity of humeral neck HP:0006366 Adductor longus contractures HP:0006367 Crumpled long bones HP:0006368 Forearm reduction defects HP:0006369 Irregular patellae HP:0006370 Distal ulnar epiphyseal stippling HP:0006371 Broad long bone diaphyses HP:0006375 Dumbbell-shaped femur HP:0006376 Limited elbow flexion HP:0006378 Osteolysis of patellae HP:0006379 Proximal tibial hypoplasia HP:0006380 Knee flexion contracture HP:0006381 Rudimentary fibula HP:0006383 Progressive bowing of long bones HP:0006384 Club-shaped distal femur HP:0006385 Short lower limbs HP:0006386 Hypoplastic distal radial epiphyses HP:0006387 Wide distal femoral metaphysis HP:0006389 Limited knee flexion HP:0006390 Anterior tibial bowing HP:0006391 Overtubulated long bones HP:0006392 Increased density of long bones HP:0006394 Limited pronation/supination of forearm HP:0006397 Lateral displacement of patellae HP:0006398 Flat distal femoral epiphysis HP:0006400 Absent knee epiphyses HP:0006402 Distal shortening of limbs HP:0006406 Club-shaped proximal femur HP:0006407 Irregular distal femoral epiphysis HP:0006408 Distal tapering femur HP:0006409 Progressive leg bowing HP:0006413 Broad tibial metaphyses HP:0006414 Distal tibial bowing HP:0006415 Cortically dense long tubular bones HP:0006417 Broad femoral metaphyses HP:0006420 Asymmetric radial dysplasia HP:0006423 Peg-like central prominence of distal tibial metaphyses HP:0006424 Elongated radius HP:0006426 Rudimentary to absent tibiae HP:0006429 Broad femoral neck HP:0006431 Proximal femoral metaphyseal abnormality HP:0006432 Trapezoidal distal femoral condyles HP:0006433 Dysplastic radii HP:0006434 Hypoplasia of proximal radius HP:0006437 Disproportionate prominence of the femoral medial condyle HP:0006438 Enlargement of the distal femoral epiphysis HP:0006439 Radioulnar dislocation HP:0006440 Increased density of long bone diaphyses HP:0006441 Lateral humeral condyle aplasia HP:0006442 Hypoplasia of proximal fibula HP:0006443 Patellar aplasia HP:0006446 Dysplastic patella HP:0006449 Distal radial epiphyseal osteolysis HP:0006450 Multicentric ossification of proximal femoral epiphyses HP:0006453 Lateral displacement of the femoral head HP:0006454 Delayed patellar ossification HP:0006456 Irregular proximal tibial epiphyses HP:0006459 Dorsal subluxation of ulna HP:0006460 Increased laxity of ankles HP:0006461 Proximal femoral epiphysiolysis HP:0006462 Generalized bone demineralization HP:0006463 Rickets of the lower limbs HP:0006465 Periosteal thickening of long tubular bones HP:0006466 Ankle contracture HP:0006467 Limited shoulder movement HP:0006470 Thin long bone diaphyses HP:0006471 Fixed elbow flexion HP:0006473 Anterior bowing of long bones HP:0006476 Abnormality of the pancreatic islet cells HP:0006477 Abnormality of the alveolar ridges HP:0006480 Premature loss of teeth HP:0006481 Abnormality of primary teeth HP:0006482 Abnormality of dental morphology HP:0006483 Abnormal number of teeth HP:0006485 Agenesis of incisor HP:0006487 Bowing of the long bones HP:0006488 Bowing of the arm HP:0006489 Abnormality of the femoral metaphysis HP:0006490 Abnormality of lower-limb metaphyses HP:0006491 Abnormality of the tibial metaphysis HP:0006492 Aplasia/Hypoplasia of the fibula HP:0006495 Aplasia/Hypoplasia of the ulna HP:0006498 Aplasia/Hypoplasia of the patella HP:0006499 Abnormality of femoral epiphysis HP:0006501 Aplasia/Hypoplasia of the radius HP:0006502 Aplasia/Hypoplasia involving the carpal bones HP:0006505 Abnormality of limb epiphysis morphology HP:0006507 Aplasia/hypoplasia of the humerus HP:0006509 Diverticulosis of trachea HP:0006510 Chronic obstructive pulmonary disease HP:0006511 Laryngeal stridor HP:0006514 Intraalveolar nodular calcifications HP:0006515 Interstitial pneumonitis HP:0006516 Hypersensitivity pneumonitis HP:0006517 Alveolar proteinosis HP:0006518 Pulmonary venous occlusion HP:0006519 Alveolar cell carcinoma HP:0006520 Progressive pulmonary function impairment HP:0006521 Pulmonary lymphangiectasia HP:0006522 Repeated pneumothoraces HP:0006524 Tracheobronchial leiomyomatosis HP:0006527 Lymphoid interstitial pneumonia HP:0006528 Chronic lung disease HP:0006530 Interstitial pulmonary abnormality HP:0006531 Pleural lymphangiectasia HP:0006532 Recurrent pneumonia HP:0006533 Bronchodysplasia HP:0006535 Recurrent intrapulmonary hemorrhage HP:0006536 Obstructive lung disease HP:0006538 Recurrent bronchopulmonary infections HP:0006539 Bronchial cartilage hypoplasia HP:0006541 Chronic obstructive airway disease from birth HP:0006543 Cardiorespiratory arrest HP:0006544 Extrapulmonary sequestrum HP:0006548 Pulmonary arteriovenous malformation HP:0006549 Unilateral primary pulmonary dysgenesis HP:0006552 Fibrocystic lung disease HP:0006554 Acute hepatic failure HP:0006555 Diffuse hepatic steatosis HP:0006557 Polycystic liver disease HP:0006558 Decreased mitochondrial complex III activity in liver tissue HP:0006559 Hepatic calcification HP:0006560 Biliary hyperplasia HP:0006561 Lipid accumulation in hepatocytes HP:0006562 Viral hepatitis HP:0006563 Malformation of the hepatic ductal plate HP:0006564 Fluctuating hepatomegaly HP:0006565 Increased hepatocellular lipid droplets HP:0006566 Neonatal cholestatic liver disease HP:0006568 Increased hepatic glycogen content HP:0006571 Reduced number of intrahepatic bile ducts HP:0006572 Subacute progressive viral hepatitis HP:0006573 Acute hepatic steatosis HP:0006574 Hepatic arteriovenous malformation HP:0006575 Intrahepatic cholestasis with episodic jaundice HP:0006576 Hepatic vascular malformations HP:0006577 Macronodular cirrhosis HP:0006579 Prolonged neonatal jaundice HP:0006580 Portal fibrosis HP:0006581 Depletion of mitochondrial DNA in liver HP:0006582 Reye syndrome-like episodes HP:0006583 Fatal liver failure in infancy HP:0006584 Small abnormally formed scapulae HP:0006585 Congenital pseudoarthrosis of the clavicle HP:0006587 Straight clavicles HP:0006589 Flaring of lower rib cage HP:0006590 Premature sternal synostosis HP:0006591 Absent glenoid fossa HP:0006593 Anomalous rib insertion to vertebrae HP:0006595 Scapulohumeral synostosis HP:0006596 Restricted chest movement HP:0006597 Diaphragmatic paralysis HP:0006598 Irregular ossification at anterior rib ends HP:0006599 Medial widening of clavicles HP:0006600 Progressive calcification of costochondral cartilage HP:0006603 Flared, irregular rib ends HP:0006606 Irregular chondrocostal junctions HP:0006607 Precocious costochondral ossification HP:0006608 Midclavicular hypoplasia HP:0006610 Wide intermamillary distance HP:0006611 Decreased number of sternal ossification centers HP:0006615 Absent in utero rib ossification HP:0006619 Anterior rib punctate calcifications HP:0006623 Costochondral joint sclerosis HP:0006625 Multifocal breast carcinoma HP:0006628 Absent sternal ossification HP:0006631 Hypoplastic distal segments of scapulae HP:0006633 Glenoid fossa hypoplasia HP:0006637 Sternal punctate calcifications HP:0006638 Midclavicular aplasia HP:0006640 Multiple rib fractures HP:0006641 Prominent floating ribs HP:0006642 Large sternal ossification centers HP:0006643 Fused sternal ossification centers HP:0006644 Thoracic dysplasia HP:0006645 Thin clavicles HP:0006646 Costal cartilage calcification HP:0006647 Congenital microthorax HP:0006649 Costochondral pain HP:0006650 Thickening of the lateral border of the scapula HP:0006655 Rib segmentation abnormalities HP:0006657 Hypoplasia of first ribs HP:0006659 Internally rotated shoulders HP:0006660 Aplastic clavicles HP:0006665 Coat hanger sign of ribs HP:0006668 Twelfth rib hypoplasia HP:0006670 Impaired myocardial contractility HP:0006671 Paroxysmal atrial tachycardia HP:0006673 Reduced systolic function HP:0006677 Prolonged QRS complex HP:0006679 Granulomatous coronary arteritis HP:0006681 Absent atrioventricular node HP:0006682 Ventricular extrasystoles HP:0006684 Ventricular preexcitation with multiple accessory pathways HP:0006685 Endocardial fibrosis HP:0006687 Aortic tortuosity HP:0006688 Paroxysmal tachycardia HP:0006689 Bacterial endocarditis HP:0006690 Myocardial calcification HP:0006691 Pulmonic valve myxoma HP:0006692 Short chordae tendineae of the tricuspid valve HP:0006693 Myocardial steatosis HP:0006694 Early progressive calcific cardiac valvular disease HP:0006695 Atrioventricular canal defect HP:0006696 Polymorphic and polytopic ventricular extrasystoles HP:0006698 Dilatation of the ventricular cavity HP:0006699 Premature atrial contractions HP:0006702 Coronary artery dissection HP:0006703 Aplasia/Hypoplasia of the lungs HP:0006704 Abnormality of the coronary arteries HP:0006706 Cystic liver disease HP:0006707 Abnormality of the hepatic vasculature HP:0006709 Aplasia/Hypoplasia of the nipples HP:0006710 Aplasia/Hypoplasia of the clavicles HP:0006712 Aplasia/Hypoplasia of the ribs HP:0006714 Aplasia/Hypoplasia of the sternum HP:0006715 Glomus tympanicum paraganglioma HP:0006716 Hereditary nonpolyposis colorectal carcinoma HP:0006717 Peripheral neuroepithelioma HP:0006719 Benign gastrointestinal tract tumors HP:0006721 Acute lymphoblastic leukemia HP:0006722 Small intestine carcinoid HP:0006723 Intestinal carcinoid HP:0006725 Pancreatic adenocarcinoma HP:0006727 T-cell acute lymphoblastic leukemias HP:0006729 Retroperitoneal chemodectomas HP:0006731 Follicular thyroid carcinoma HP:0006732 Papillary renal cell carcinoma type 2 HP:0006733 Acute megakaryocytic leukemia HP:0006735 Renal cortical adenoma HP:0006737 Extraadrenal pheochromocytoma HP:0006739 Squamous cell carcinoma of the skin HP:0006740 Transitional cell carcinoma of the bladder HP:0006742 Congenital neuroblastoma HP:0006743 Embryonal rhabdomyosarcoma HP:0006744 Adrenocortical carcinoma HP:0006747 Ganglioneuroblastoma HP:0006748 Adrenal pheochromocytoma HP:0006749 Malignant gastrointestinal tract tumors HP:0006751 Paraspinal neurofibromas HP:0006753 Neoplasm of the stomach HP:0006755 Cutaneous leiomyosarcoma HP:0006756 Diffuse leiomyomatosis HP:0006758 Malignant genitourinary tract tumor HP:0006762 Renal pelvic carcinoma HP:0006763 Anal canal squamous carcinoma HP:0006765 Chondrosarcoma HP:0006766 Papillary renal cell carcinoma HP:0006767 Pituitary prolactin cell adenoma HP:0006768 Localized neuroblastoma HP:0006769 Myxoid subcutaneous tumors HP:0006770 Clear cell renal cell carcinoma HP:0006771 Duodenal adenocarcinoma HP:0006772 Renal angiomyolipoma HP:0006773 Cutaneous angiolipomas HP:0006774 Ovarian papillary adenocarcinoma HP:0006775 Multiple myeloma HP:0006778 Benign genitourinary tract neoplasm HP:0006779 Alveolar rhabdomyosarcoma HP:0006780 Parathyroid carcinoma HP:0006781 Hurthle cell thyroid adenoma HP:0006782 Malignant eosinophil proliferation HP:0006783 Posterior pharyngeal cleft HP:0006784 Paranasal sinus hypoplasia HP:0006785 Limb-girdle muscular dystrophy HP:0006789 Mitochondrial encephalopathy HP:0006790 Cerebral cortex with spongiform changes HP:0006794 Loss of ability to walk in first decade HP:0006799 Basal ganglia cysts HP:0006801 Hyperactive deep tendon reflexes HP:0006802 Abnormal anterior horn cell morphology HP:0006803 Vivid hallucinations HP:0006808 Cerebral hypomyelination HP:0006812 White mater abnormalities in the posterior periventricular region HP:0006813 Hemiclonic seizures HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis HP:0006818 Type I lissencephaly HP:0006821 Polymicrogyria, anterior to posterior gradient HP:0006824 Cranial nerve paralysis HP:0006825 Pallor of dorsal columns of the spinal cord HP:0006827 Atrophy of the spinal cord HP:0006829 Severe muscular hypotonia HP:0006830 Severe neonatal hypotonia in males HP:0006834 Developmental stagnation at onset of seizures HP:0006837 Congenital Horner syndrome HP:0006844 Absent patellar reflexes HP:0006846 Acute encephalopathy HP:0006849 Hypodysplasia of the corpus callosum HP:0006850 Hypoplasia of the ventral pons HP:0006851 Symmetric spinal nerve root neurofibromas HP:0006852 Episodic generalized hypotonia HP:0006855 Cerebellar vermis atrophy HP:0006858 Impaired distal proprioception HP:0006859 Posterior leukoencephalopathy HP:0006863 Severe expressive language delay HP:0006866 Midline central nervous system lipomas HP:0006870 Lobar holoprosencephaly HP:0006872 Cerebral hypoplasia HP:0006873 Symmetrical progressive peripheral demyelination HP:0006879 Pontocerebellar atrophy HP:0006880 Cerebellar hemangioblastoma HP:0006882 Severe hydrocephalus HP:0006886 Impaired distal vibration sensation HP:0006887 Intellectual disability, progressive HP:0006888 Meningoencephalocele HP:0006889 Intellectual disability, borderline HP:0006891 Thick cerebral cortex HP:0006892 Frontotemporal cerebral atrophy HP:0006893 Severely dysplastic cerebellum HP:0006894 Hypoplastic olfactory lobes HP:0006895 Lower limb hypertonia HP:0006896 Hypnopompic hallucinations HP:0006897 Cranial nerve VI palsy HP:0006899 Fusion of the cerebellar hemispheres HP:0006901 Impaired thermal sensitivity HP:0006903 Congenital peripheral neuropathy HP:0006904 Late-onset spinocerebellar degeneration HP:0006906 Congenital intracerebral calcification HP:0006913 Frontal cortical atrophy HP:0006915 Inability to walk by childhood/adolescence HP:0006916 Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material HP:0006918 Diffuse cerebral sclerosis HP:0006919 Abnormal aggressive, impulsive or violent behavior HP:0006921 Axial muscle stiffness HP:0006926 Metachromatic leukodystrophy variant HP:0006927 Unilateral polymicrogyria HP:0006929 Hypoglycemic encephalopathy HP:0006931 Lipoma of corpus callosum HP:0006932 Transient psychotic episodes HP:0006934 Congenital nystagmus HP:0006937 Impaired distal tactile sensation HP:0006938 Impaired vibration sensation at ankles HP:0006943 Diffuse spongiform leukoencephalopathy HP:0006944 Abolished vibration sense HP:0006946 Recurrent meningitis HP:0006949 Episodic peripheral neuropathy HP:0006951 Retrocerebellar cyst HP:0006955 Olivopontocerebellar hypoplasia HP:0006956 Dilation of lateral ventricles HP:0006957 Loss of ability to walk HP:0006958 Abnormal auditory evoked potentials HP:0006959 Proximal spinal muscular atrophy HP:0006960 Choroid plexus calcification HP:0006961 Jerky head movements HP:0006962 Gait instability, worse in the dark HP:0006964 Cerebral cortical neurodegeneration HP:0006965 Acute necrotizing encephalopathy HP:0006970 Periventricular leukomalacia HP:0006976 Necrotizing encephalopathy HP:0006977 Grammar-specific speech disorder HP:0006978 Dysmyelinating leukodystrophy HP:0006979 Sleep-wake cycle disturbance HP:0006980 Progressive leukoencephalopathy HP:0006983 Slowly progressive spastic quadriparesis HP:0006984 Distal sensory loss of all modalities HP:0006986 Upper limb spasticity HP:0006988 Alobar holoprosencephaly HP:0006989 Dysplastic corpus callosum HP:0006990 Myelin-dependent gliosis HP:0006992 Anterior basal encephalocele HP:0006994 Diffuse leukoencephalopathy HP:0006999 Basal ganglia gliosis HP:0007000 Morning myoclonic jerks HP:0007001 Loss of Purkinje cells in the cerebellar vermis HP:0007002 Motor axonal neuropathy HP:0007006 Dorsal column degeneration HP:0007007 Cavitation of the basal ganglia HP:0007009 Central nervous system degeneration HP:0007010 Poor fine motor coordination HP:0007011 Fourth cranial nerve palsy HP:0007015 Poor gross motor coordination HP:0007016 Corticospinal tract hypoplasia HP:0007017 Progressive forgetfulness HP:0007018 Attention deficit hyperactivity disorder HP:0007020 Progressive spastic paraplegia HP:0007021 Pain insensitivity HP:0007023 Antenatal intracerebral hemorrhage HP:0007024 Pseudobulbar paralysis HP:0007027 Poorly formed metencephalon HP:0007029 Cerebral berry aneurysm HP:0007030 Nonprogressive encephalopathy HP:0007033 Cerebellar dysplasia HP:0007034 Generalized hyperreflexia HP:0007035 Anterior encephalocele HP:0007036 Hypoplasia of olfactory tract HP:0007039 Symmetric lesions of the basal ganglia HP:0007041 Chronic lymphocytic meningitis HP:0007042 Focal white matter lesions HP:0007045 Midline brain calcifications HP:0007047 Atrophy of the dentate nucleus HP:0007048 Large basal ganglia HP:0007052 Multifocal cerebral white matter abnormalities HP:0007054 Hyperreflexia proximally HP:0007057 Poor hand-eye coordination HP:0007058 Generalized cerebral atrophy/hypoplasia HP:0007063 Aplasia of the inferior half of the cerebellar vermis HP:0007064 Progressive language deterioration HP:0007065 Disorganization of the anterior cerebellar vermis HP:0007066 Proximal limb muscle stiffness HP:0007067 Distal peripheral sensory neuropathy HP:0007068 Inferior vermis hypoplasia HP:0007069 Profound static encephalopathy HP:0007074 Thick corpus callosum HP:0007076 Extrapyramidal muscular rigidity HP:0007078 Decreased amplitude of sensory action potentials HP:0007081 Late-onset muscular dystrophy HP:0007082 Dilated third ventricle HP:0007083 Hyperactive patellar reflex HP:0007086 Social and occupational deterioration HP:0007089 Facial-lingual fasciculations HP:0007095 Frontoparietal polymicrogyria HP:0007096 Hypoplasia of the optic tract HP:0007097 Cranial nerve motor loss HP:0007098 Paroxysmal choreoathetosis HP:0007099 Arnold-Chiari type I malformation HP:0007100 Progressive ventriculomegaly HP:0007103 Hypointensity of cerebral white matter on MRI HP:0007104 Prolonged somatosensory evoked potentials HP:0007105 Infantile encephalopathy HP:0007107 Segmental peripheral demyelination HP:0007108 Demyelinating peripheral neuropathy HP:0007109 Periventricular cysts HP:0007110 Central hypoventilation HP:0007111 Chronic hepatic encephalopathy HP:0007112 Temporal cortical atrophy HP:0007115 Orbital encephalocele HP:0007117 Corticospinal tract atrophy HP:0007123 Subcortical dementia HP:0007126 Proximal amyotrophy HP:0007129 Cerebellar medulloblastoma HP:0007131 Acute demyelinating polyneuropathy HP:0007132 Pallidal degeneration HP:0007133 Progressive peripheral neuropathy HP:0007141 Sensorimotor neuropathy HP:0007146 Bilateral basal ganglia lesions HP:0007149 Distal upper limb amyotrophy HP:0007153 Progressive extrapyramidal movement disorder HP:0007156 Asymmetric limb muscle stiffness HP:0007158 Progressive extrapyramidal muscular rigidity HP:0007159 Fluctuations in consciousness HP:0007162 Diffuse demyelination of the cerebral white matter HP:0007164 Slowed slurred speech HP:0007165 Periventricular gray matter heterotopia HP:0007166 Paroxysmal dyskinesia HP:0007178 Motor polyneuropathy HP:0007179 Absent smooth pursuit HP:0007181 Interosseus muscle atrophy HP:0007182 Peripheral hypomyelination HP:0007183 Focal T2 hyperintense basal ganglia lesion HP:0007185 Loss of consciousness HP:0007187 Focal lissencephaly HP:0007188 Congenital facial diplegia HP:0007190 Neuronal loss in the cerebral cortex HP:0007193 Generalized tonic-clonic seizures on awakening HP:0007199 Progressive spastic paraparesis HP:0007200 Episodic hypersomnia HP:0007201 Cerebral artery atherosclerosis HP:0007204 Diffuse white matter abnormalities HP:0007206 Hemimegalencephaly HP:0007207 Photosensitive tonic-clonic seizures HP:0007208 Irregular myelin loops HP:0007209 Facial paralysis HP:0007210 Lower limb amyotrophy HP:0007215 Periodic hyperkalemic paralysis HP:0007220 Demyelinating motor neuropathy HP:0007221 Progressive truncal ataxia HP:0007227 Macrogyria HP:0007229 Intracerebral periventricular calcifications HP:0007230 Decreased distal sensory nerve action potential HP:0007232 Spinocerebellar tract disease in lower limbs HP:0007233 Clusters of axonal regeneration HP:0007236 Recurrent subcortical infarcts HP:0007238 Nonarteriosclerotic cerebral calcification HP:0007239 Congenital encephalopathy HP:0007240 Progressive gait ataxia HP:0007249 Decreased number of small peripheral myelinated nerve fibers HP:0007250 Recurrent external ophthalmoplegia HP:0007256 Abnormal pyramidal signs HP:0007258 Severe demyelination of the white matter HP:0007260 Type II lissencephaly HP:0007262 Symmetric peripheral demyelination HP:0007263 Spinocerebellar atrophy HP:0007265 Absent mesencephalon HP:0007266 Cerebral dysmyelination HP:0007267 Chronic axonal neuropathy HP:0007268 Aprosencephaly HP:0007269 Spinal muscular atrophy HP:0007270 Atypical absence seizures HP:0007271 Occipital myelomeningocele HP:0007272 Progressive psychomotor deterioration HP:0007274 Recurrent bacterial meningitis HP:0007277 Paucity of anterior horn motor neurons HP:0007280 Acute infantile spinal muscular atrophy HP:0007281 Developmental stagnation HP:0007285 Facial palsy secondary to cranial hyperostosis HP:0007286 Horizontal jerk nystagmus HP:0007289 Limb fasciculations HP:0007291 Posterior fossa cyst HP:0007293 Anterior sacral meningocele HP:0007295 Chaotic rapid conjugate ocular movements HP:0007299 Dysfunction of lateral corticospinal tracts HP:0007301 Oromotor apraxia HP:0007302 Bipolar affective disorder HP:0007305 CNS demyelination HP:0007307 Rapid neurologic deterioration HP:0007308 Extrapyramidal dyskinesia HP:0007311 Short stepped shuffling gait HP:0007313 Cerebral degeneration HP:0007314 White matter neuronal heterotopia HP:0007321 Deep white matter hypodensities HP:0007325 Generalized dystonia HP:0007326 Progressive choreoathetosis HP:0007327 Mixed demyelinating and axonal polyneuropathy HP:0007328 Impaired pain sensation HP:0007330 Frontal encephalocele HP:0007332 Hemifacial seizures HP:0007333 Hypoplasia of the frontal lobes HP:0007334 Generalized tonic-clonic seizures with focal onset HP:0007335 Recurrent encephalopathy HP:0007338 Hypermetric saccades HP:0007340 Lower limb muscle weakness HP:0007341 Diffuse swelling of cerebral white matter HP:0007343 Abnormal morphology of the limbic system HP:0007344 Atrophy/Degeneration involving the spinal cord HP:0007346 Subcortical white matter calcifications HP:0007350 Hyperreflexia in upper limbs HP:0007351 Upper limb postural tremor HP:0007352 Cerebellar calcifications HP:0007354 Amyotrophic lateral sclerosis HP:0007359 Focal seizures HP:0007360 Aplasia/Hypoplasia of the cerebellum HP:0007361 Abnormality of the pons HP:0007366 Atrophy/Degeneration affecting the brainstem HP:0007370 Aplasia/Hypoplasia of the corpus callosum HP:0007371 Corpus callosum atrophy HP:0007372 Atrophy/Degeneration involving the corticospinal tracts HP:0007375 Abnormality of the septum pellucidum HP:0007376 Abnormality of the choroid plexus HP:0007377 Abnormality of somatosensory evoked potentials HP:0007378 Neoplasm of the gastrointestinal tract HP:0007380 Facial telangiectasia HP:0007381 Congenital exfoliative erythroderma HP:0007383 Congenital localized absence of skin HP:0007384 Aberrant melanosome maturation HP:0007385 Aplasia cutis congenita of scalp HP:0007387 Hypoplastic sweat glands HP:0007390 Hyperkeratosis with erythema HP:0007392 Excessive wrinkled skin HP:0007394 Prominent superficial blood vessels HP:0007395 Postnatal-onset ichthyosiform erythroderma HP:0007396 Early cutaneous photosensitivity HP:0007397 Axillary apocrine gland hypoplasia HP:0007398 Asymmetric, linear skin defects HP:0007400 Irregular hyperpigmentation HP:0007401 Macular atrophy HP:0007402 Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines HP:0007403 Hypertrophy of skin of soles HP:0007404 Nonepidermolytic palmoplantar keratoderma HP:0007406 Hyperpigmentation of eyelids HP:0007407 Excessive skin wrinkling on dorsum of hands and fingers HP:0007408 Tegumentary leishmaniasis susceptibility HP:0007409 Absence of subcutaneous fat over entire body except buttocks, hips, and thighs HP:0007410 Palmoplantar hyperhidrosis HP:0007411 Hypoplastic-absent sebaceous glands HP:0007412 Macular hyperpigmented dermopathy HP:0007413 Nevus flammeus of the forehead HP:0007414 Neonatal wrinkled skin of hands and feet HP:0007417 Discoid lupus rash HP:0007418 Alopecia totalis HP:0007420 Spontaneous hematomas HP:0007421 Telangiectases of the cheeks HP:0007425 Hyperextensible skin of face HP:0007427 Reticulated skin pigmentation HP:0007428 Telangiectasia of the oral mucosa HP:0007429 Few cafe-au-lait spots HP:0007430 Generalized edema HP:0007431 Congenital ichthyosiform erythroderma HP:0007432 Intermittent generalized erythematous papular rash HP:0007434 Plaque-like facial hemangioma HP:0007435 Diffuse palmoplantar keratoderma HP:0007436 Hair-nail ectodermal dysplasia HP:0007437 Multiple cutaneous leiomyomas HP:0007438 Mottled pigmentation of the trunk and proximal extremities HP:0007439 Generalized keratosis follicularis HP:0007440 Generalized hyperpigmentation HP:0007441 Hyperpigmented/hypopigmented macules HP:0007443 Partial albinism HP:0007446 Palmoplantar blistering HP:0007447 Diffuse palmoplantar hyperkeratosis HP:0007448 Hyperkeratosis over edematous areas HP:0007449 Confetti-like hypopigmented macules HP:0007450 Increased groin pigmentation with raindrop depigmentation HP:0007451 Ipsilateral lack of facial sweating HP:0007452 Midface capillary hemangioma HP:0007453 Flexural lichenification HP:0007455 Adermatoglyphia HP:0007456 Progressive reticulate hyperpigmentation HP:0007457 Prominent veins on trunk HP:0007459 Generalized anhidrosis HP:0007460 Autoamputation of digits HP:0007461 Hemangiomatosis HP:0007462 Bitot spots of the conjunctiva HP:0007464 Sparse facial hair HP:0007465 Honeycomb palmoplantar keratoderma HP:0007466 Midfrontal capillary hemangioma HP:0007468 Perifollicular hyperkeratosis HP:0007469 Palmoplantar cutis gyrata HP:0007470 Periarticular subcutaneous nodules HP:0007471 Axillary and groin hyperpigmentation and hypopigmentation HP:0007473 Crusting erythematous dermatitis HP:0007475 Congenital bullous ichthyosiform erythroderma HP:0007476 Anhidrotic ectodermal dysplasia HP:0007477 Abnormal dermatoglyphics HP:0007479 Congenital nonbullous ichthyosiform erythroderma HP:0007480 Decreased sweating due to autonomic dysfunction HP:0007481 Hyperpigmented nevi HP:0007482 Generalized papillary lesions HP:0007483 Depigmentation/hyperpigmentation of skin HP:0007485 Absence of subcutaneous fat HP:0007486 Cavernous hemangioma of the face HP:0007488 Diffuse skin atrophy HP:0007489 Diffuse telangiectasia HP:0007490 Linear arrays of macular hyperkeratoses in flexural areas HP:0007494 Discrete 2 to 5-mm hyper- and hypopigmented macules HP:0007495 Prematurely aged appearance HP:0007497 Focal friction-related palmoplantar hyperkeratosis HP:0007499 Recurrent staphylococcal infections HP:0007500 Decreased number of sweat glands HP:0007501 Streaks of hyperkeratosis along each finger onto the palm HP:0007502 Follicular hyperkeratosis HP:0007503 Generalized ichthyosis HP:0007504 Diffuse slow skin atrophy HP:0007505 Progressive hyperpigmentation HP:0007506 Congenital absence of skin of limbs HP:0007508 Punctate palmar hyperkeratosis HP:0007509 Patchy hypo- and hyperpigmentation HP:0007510 Focal dermal aplasia/hypoplasia HP:0007511 Mottled pigmentation of photoexposed areas HP:0007514 Edema of the dorsum of hands HP:0007515 Hypoplastic pilosebaceous units HP:0007516 Redundant skin on fingers HP:0007517 Palmoplantar cutis laxa HP:0007521 Irregular hyperpigmentation of back HP:0007522 Increased number of skin folds HP:0007524 Atypical neurofibromatosis HP:0007525 Yellow subcutaneous tissue covered by thin, scaly skin HP:0007526 Hypopigmented skin patches on arms HP:0007529 Hidrotic ectodermal dysplasia HP:0007530 Punctate palmoplantar hyperkeratosis HP:0007534 Congenital posterior occipital alopecia HP:0007535 Hypopigmented streaks HP:0007536 Aplasia cutis congenita of midline scalp vertex HP:0007537 Severe photosensitivity HP:0007541 Frontal cutaneous lipoma HP:0007542 Absent pigmentation of the ventral chest HP:0007544 Piebaldism HP:0007545 Congenital palmoplantar keratosis HP:0007546 Linear hyperpigmentation HP:0007548 Palmoplantar keratosis with erythema and scale HP:0007549 Desquamation of skin soon after birth HP:0007550 Hypohidrosis or hyperhidrosis HP:0007552 Abnormal subcutaneous fat tissue distribution HP:0007553 Congenital symmetrical palmoplantar keratosis HP:0007556 Plantar hyperkeratosis HP:0007559 Localized epidermolytic hyperkeratosis HP:0007560 Unusual dermatoglyphics HP:0007561 Telangiectases in sun-exposed and nonexposed skin HP:0007565 Multiple cafe-au-lait spots HP:0007569 Generalized seborrheic dermatitis HP:0007570 Hyperkeratosis lenticularis perstans HP:0007572 Hyperpigmented streaks HP:0007573 Late onset atopic dermatitis HP:0007574 Generalized bronze hyperpigmentation HP:0007576 Palmar neurofibromas HP:0007581 Mediosternal, longitudinal streak of hypopigmentation HP:0007583 Telangiectasia macularis eruptiva perstans HP:0007585 Skin fragility with non-scarring blistering HP:0007586 Telangiectases producing 'marbled' skin HP:0007587 Numerous pigmented freckles HP:0007588 Reticular hyperpigmentation HP:0007589 Aplasia cutis congenita on trunk or limbs HP:0007590 Aplasia cutis congenita over posterior parietal area HP:0007592 Aplasia/Hypoplastia of the eccrine sweat glands HP:0007595 Redundant skin in infancy HP:0007596 Painful subcutaneous lipomas HP:0007597 Congenital palmoplantar keratodermia HP:0007598 Bilateral single transverse palmar creases HP:0007599 Generalized reticulate brown pigmentation HP:0007601 Midline facial capillary hemangioma HP:0007602 Complex palmar dermatoglyphic pattern HP:0007603 Freckles in sun-exposed areas HP:0007605 Excessive wrinkling of palmar skin HP:0007606 Multiple cutaneous malignancies HP:0007607 Hypohidrotic ectodermal dysplasia HP:0007608 Abnormal palmar dermal ridges HP:0007609 Hypoproteinemic edema HP:0007610 Blotching pigmentation of the skin HP:0007613 Spinous keratoses of palms and soles HP:0007616 Nevus flammeus nuchae HP:0007617 Fine, reticulate skin pigmentation HP:0007618 Subcutaneous calcification HP:0007620 Cutaneous leiomyoma HP:0007621 Telangiectasia of extensor surfaces HP:0007623 Pigmentation anomalies of sun-exposed skin HP:0007626 Mandibular osteomyelitis HP:0007627 Mandibular condyle aplasia HP:0007628 Mandibular condyle hypoplasia HP:0007633 Bilateral microphthalmos HP:0007634 Nonarteritic anterior ischemic optic neuropathy HP:0007641 Dyschromatopsia HP:0007642 Congenital stationary night blindness HP:0007643 Peripheral traction retinal detachment HP:0007646 Absent lower eyelashes HP:0007647 Congenital extraocular muscle anomaly HP:0007648 Punctate cataract HP:0007649 Congenital hypertrophy of retinal pigment epithelium HP:0007650 Progressive ophthalmoplegia HP:0007651 Ectropion of lower eyelids HP:0007655 Eversion of lateral third of lower eyelids HP:0007656 Lacrimal gland aplasia HP:0007657 Diffuse nuclear cataract HP:0007658 Large hyperpigmented retinal spots HP:0007661 Abnormality of chorioretinal pigmentation HP:0007663 Reduced visual acuity HP:0007665 Curly eyelashes HP:0007668 Impaired pursuit initiation and maintenance HP:0007670 Abnormal vestibulo-ocular reflex HP:0007675 Progressive night blindness HP:0007676 Hypoplasia of the iris HP:0007677 Vitelliform-like macular lesions HP:0007678 Lacrimal duct stenosis HP:0007680 Depigmented fundus HP:0007685 Peripheral retinal avascularization HP:0007686 Abnormal pupillary function HP:0007687 Unilateral ptosis HP:0007688 Undetectable light- and dark-adapted electroretinogram HP:0007690 Map-dot-fingerprint corneal dystrophy HP:0007695 Abnormal pupillary light reflex HP:0007697 Hypoplasia of the lower eyelids HP:0007700 Anterior segment dysgenesis HP:0007702 Pigmentary retinal deposits HP:0007703 Abnormality of retinal pigmentation HP:0007704 Paroxysmal involuntary eye movements HP:0007705 Corneal degeneration HP:0007707 Congenital primary aphakia HP:0007708 Absent inner eyelashes HP:0007709 Band-shaped corneal dystrophy HP:0007710 Peripheral vitreous opacities HP:0007713 Juvenile zonular cataracts HP:0007715 Weak extraocular muscles HP:0007716 Intraocular melanoma HP:0007717 Chronic irritative conjunctivitis HP:0007720 Flat cornea HP:0007721 Saccular conjunctival dilatations HP:0007722 Retinal pigment epithelial atrophy HP:0007727 Opacification of the corneal epithelium HP:0007728 Congenital miosis HP:0007730 Iris hypopigmentation HP:0007731 Chorioretinal dysplasia HP:0007732 Lacrimal gland hypoplasia HP:0007733 Laterally curved eyebrow HP:0007734 Enlarged lacrimal glands HP:0007737 Bone spicule pigmentation of the retina HP:0007738 Uncontrolled eye movements HP:0007740 Long eyelashes in irregular rows HP:0007744 Iridoretinal coloboma HP:0007747 Monocular horizontal nystagmus HP:0007748 Irido-fundal coloboma HP:0007750 Hypoplasia of the fovea HP:0007754 Macular dystrophy HP:0007755 Juvenile epithelial corneal dystrophy HP:0007756 Slitlike anterior chamber angles in children HP:0007758 Congenital visual impairment HP:0007759 Opacification of the corneal stroma HP:0007760 Crystalline corneal dystrophy HP:0007761 Pericentral scotoma HP:0007763 Retinal telangiectasia HP:0007765 Deep anterior chamber HP:0007766 Optic disc hypoplasia HP:0007768 Central retinal vessel vascular tortuosity HP:0007769 Peripheral retinal degeneration HP:0007770 Hypoplasia of the retina HP:0007772 Impaired smooth pursuit HP:0007773 Vitreoretinopathy HP:0007774 Hypoplasia of the ciliary body HP:0007776 Sparse lower eyelashes HP:0007777 Chorioretinal scar HP:0007778 Posterior retinal neovascularization HP:0007779 Anterior segment of eye aplasia HP:0007780 Cortical pulverulent cataract HP:0007782 Peripheral retinal cone degeneration HP:0007787 Posterior subcapsular cataract HP:0007792 Microsaccadic pursuit HP:0007793 Granular macular appearance HP:0007795 Anterior cortical cataract HP:0007797 Retinal vascular malformation HP:0007799 Conjunctival whitish salt-like deposits HP:0007800 Increased axial globe length HP:0007802 Granular corneal dystrophy HP:0007803 Monochromacy HP:0007807 Optic nerve compression HP:0007808 Bilateral retinal coloboma HP:0007809 Punctate corneal dystrophy HP:0007811 Horizontal pendular nystagmus HP:0007812 Herpetiform corneal ulceration HP:0007813 Nongranulomatous uveitis HP:0007814 Retinal pigment epithelial mottling HP:0007815 Abnormal distribution of retinal arterioles and venules HP:0007817 Horizontal supranuclear gaze palsy HP:0007818 Central heterochromia HP:0007819 Presenile cataracts HP:0007820 Atretic lacrimal punctum HP:0007822 Central retinal exudate HP:0007824 Total ophthalmoplegia HP:0007827 Nodular corneal dystrophy HP:0007829 Diffuse retinal cone degeneration HP:0007830 Adult-onset night blindness HP:0007831 Nonprogressive restrictive external ophthalmoplegia HP:0007832 Pigmentation of the sclera HP:0007833 Anterior chamber synechiae HP:0007834 Progressive cataract HP:0007835 S-shaped palpebral fissures HP:0007836 Mosaic corneal dystrophy HP:0007838 Progressive ptosis HP:0007841 Amyloid deposition in the vitreous humor HP:0007843 Attenuation of retinal blood vessels HP:0007850 Retinal vascular proliferation HP:0007854 Glaucomatous visual field defect HP:0007856 Punctate opacification of the cornea HP:0007858 Chorioretinal lacunae HP:0007859 Congenital horizontal nystagmus HP:0007862 Retinal calcification HP:0007866 Retinal infarction HP:0007867 Restrictive partial external ophthalmoplegia HP:0007868 Age-related macular degeneration HP:0007872 Choroidal hemangioma HP:0007873 Abnormally prominent line of Schwalbe HP:0007874 Almond-shaped palpebral fissure HP:0007875 Congenital blindness HP:0007876 Juvenile cortical cataract HP:0007879 Allergic conjunctivitis HP:0007880 Marginal corneal dystrophy HP:0007881 Central corneal dystrophy HP:0007885 Slowed horizontal saccades HP:0007886 Absent extraocular muscles HP:0007889 Iridescent posterior subcapsular cataract HP:0007892 Hypoplasia of the lacrimal puncta HP:0007893 Progressive retinal degeneration HP:0007894 Hypopigmentation of the fundus HP:0007898 Exudative retinopathy HP:0007899 Retinal nonattachment HP:0007900 Hypoplastic lacrimal duct HP:0007902 Vitreous hemorrhage HP:0007903 Paravenous chorioretinal atrophy HP:0007905 Abnormal iris vasculature HP:0007906 Increased intraocular pressure HP:0007911 Congenital bilateral ptosis HP:0007913 Reticular retinal dystrophy HP:0007915 Polymorphous posterior corneal dystrophy HP:0007917 Tractional retinal detachment HP:0007922 Hypermyelinated retinal nerve fibers HP:0007924 Slow decrease in visual acuity HP:0007925 Lacrimal duct aplasia HP:0007928 Abnormal flash visual evoked potentials HP:0007929 Peripheral retinal detachment HP:0007930 Prominent epicanthal folds HP:0007933 Broad lateral eyebrow HP:0007935 Juvenile posterior subcapsular lenticular opacities HP:0007936 Restrictive external ophthalmoplegia HP:0007937 Reticular pigmentary degeneration HP:0007939 Blue cone monochromacy HP:0007941 Limited extraocular movements HP:0007942 Internal ophthalmoplegia HP:0007943 Congenital stapes ankylosis HP:0007944 Intermittent microsaccadic pursuits HP:0007946 Unilateral narrow palpebral fissure HP:0007947 Pericentral retinitis pigmentosa HP:0007948 Dense posterior cortical cataract HP:0007950 Peripapillary chorioretinal atrophy HP:0007957 Corneal opacity HP:0007958 Optic atrophy from cranial nerve compression HP:0007961 Rarefaction of retinal pigmentation HP:0007962 Speckled corneal dystrophy HP:0007964 Degenerative vitreoretinopathy HP:0007965 Undetectable visual evoked potentials HP:0007968 Remnants of the hyaloid vascular system HP:0007970 Congenital ptosis HP:0007971 Lamellar cataract HP:0007973 Retinal dysplasia HP:0007975 Hypometric horizontal saccades HP:0007976 Cerulean cataract HP:0007979 Gaze-evoked horizontal nystagmus HP:0007980 Absent retinal pigment epithelium HP:0007984 Electronegative electroretinogram HP:0007985 Retinal arteriolar occlusion HP:0007986 Increased retinal vascularity HP:0007987 Progressive visual field defects HP:0007988 Macular hypopigmentation HP:0007989 Intraretinal exudate HP:0007990 Hypoplastic iris stroma HP:0007992 Lattice retinal degeneration HP:0007993 Malformed lacrimal ducts HP:0007994 Peripheral visual field loss HP:0008000 Decreased corneal reflex HP:0008001 Foveal hyperpigmentation HP:0008002 Abnormality of macular pigmentation HP:0008003 Jerky ocular pursuit movements HP:0008005 Congenital corneal dystrophy HP:0008007 Primary congenital glaucoma HP:0008009 Three rows of eyelashes HP:0008011 Peripheral opacification of the cornea HP:0008012 Congenital myopia HP:0008014 Central fundal arteriolar microaneurysms HP:0008019 Superior lens subluxation HP:0008020 Progressive cone degeneration HP:0008024 Congenital nuclear cataract HP:0008026 Horizontal opticokinetic nystagmus HP:0008028 Cystoid macular degeneration HP:0008030 Retinal arteritis HP:0008031 Posterior Y-sutural cataract HP:0008033 Congenital exotropia HP:0008034 Abnormal iris pigmentation HP:0008035 Retinitis pigmentosa inversa HP:0008037 Absent anterior eye chamber HP:0008039 Subepithelial corneal opacities HP:0008041 Late onset congenital glaucoma HP:0008043 Retinal arteriolar constriction HP:0008045 Enlarged flash visual evoked potentials HP:0008046 Abnormality of the retinal vasculature HP:0008050 Abnormality of the palpebral fissures HP:0008052 Retinal fold HP:0008053 Aplasia/Hypoplasia of the iris HP:0008059 Aplasia/Hypoplasia of the macula HP:0008060 Aplasia/Hypoplasia of the fovea HP:0008063 Aplasia/Hypoplasia of the lens HP:0008064 Ichthyosis HP:0008065 Aplasia/Hypoplasia of the skin HP:0008066 Abnormal blistering of the skin HP:0008069 Neoplasm of the skin HP:0008070 Sparse hair HP:0008071 Maternal hypertension HP:0008072 Maternal virilization in pregnancy HP:0008073 Low maternal serum estriol HP:0008074 Metatarsal periosteal thickening HP:0008075 Progressive pes cavus HP:0008076 Osteoporotic tarsals HP:0008078 Thin metatarsal cortices HP:0008079 Absent fifth metatarsal HP:0008080 Hallux varus HP:0008081 Pes valgus HP:0008082 Medial deviation of the foot HP:0008083 2nd-5th toe middle phalangeal hypoplasia HP:0008087 Nonossified fifth metatarsal HP:0008089 Abnormality of the fifth metatarsal bone HP:0008090 Ankylosis of feet small joints HP:0008093 Short 4th toe HP:0008094 Widely spaced toes HP:0008095 Osteolysis of talus HP:0008096 Medially deviated second toe HP:0008097 Partial fusion of tarsals HP:0008102 Expanded metatarsals with widened medullary cavities HP:0008103 Delayed tarsal ossification HP:0008107 Plantar crease between first and second toes HP:0008108 Advanced tarsal ossification HP:0008110 Equinovarus deformity HP:0008111 Broad distal hallux HP:0008112 Plantar flexion contractures HP:0008113 Multiple plantar creases HP:0008114 Metatarsal diaphyseal endosteal sclerosis HP:0008115 Clinodactyly of the 3rd toe HP:0008116 Flexion limitation of toes HP:0008117 Shortening of the talar neck HP:0008119 Deformed tarsal bones HP:0008122 Calcaneonavicular fusion HP:0008124 Talipes calcaneovarus HP:0008125 Second metatarsal posteriorly placed HP:0008127 Bipartite calcaneus HP:0008131 Tarsal stippling HP:0008132 Medial rotation of the medial malleolus HP:0008133 Distal tapering of metatarsals HP:0008134 Irregular tarsal ossification HP:0008138 Equinus calcaneus HP:0008141 Dislocation of toes HP:0008142 Delayed calcaneal ossification HP:0008144 Flattening of the talar dome HP:0008148 Impaired epinephrine-induced platelet aggregation HP:0008150 Elevated serum transaminases during infections HP:0008151 Prolonged prothrombin time HP:0008153 Periodic hypokalemic paresis HP:0008158 Hyperapobetalipoproteinemia HP:0008161 Absent leukocyte alkaline phosphatase HP:0008162 Asymptomatic hyperammonemia HP:0008163 Decreased circulating cortisol level HP:0008165 Reduced circulating T-helper cells HP:0008166 Decreased beta-galactosidase activity HP:0008167 Very long chain fatty acid accumulation HP:0008169 Reduced factor VII activity HP:0008176 Neonatal unconjugated hyperbilirubinemia HP:0008178 Abnormal cartilage matrix HP:0008180 Mildly elevated creatine phosphokinase HP:0008181 Abetalipoproteinemia HP:0008182 Adrenocortical hypoplasia HP:0008185 Precocious puberty in males HP:0008186 Adrenocortical cytomegaly HP:0008187 Absence of secondary sex characteristics HP:0008188 Thyroid dysgenesis HP:0008189 Insulin insensitivity HP:0008191 Thyroid agenesis HP:0008193 Primary gonadal insufficiency HP:0008194 Multiple pancreatic beta-cell adenomas HP:0008197 Absence of pubertal development HP:0008198 Congenital hypoparathyroidism HP:0008200 Primary hyperparathyroidism HP:0008202 Prolactin deficiency HP:0008204 Precocious puberty with Sertoli cell tumor HP:0008205 Insulin-dependent but ketosis-resistant diabetes HP:0008207 Primary adrenal insufficiency HP:0008208 Parathyroid hyperplasia HP:0008209 Premature ovarian insufficiency HP:0008211 Parathyroid agenesis HP:0008213 Gonadotropin deficiency HP:0008214 Decreased serum estradiol HP:0008216 Adrenal gland dysgenesis HP:0008221 Adrenal hyperplasia HP:0008222 Female infertility HP:0008223 Compensated hypothyroidism HP:0008225 Thyroid follicular hyperplasia HP:0008226 Androgen insufficiency HP:0008227 Pituitary resistance to thyroid hormone HP:0008229 Thyroid lymphangiectasia HP:0008230 Decreased testosterone in males HP:0008231 Macronodular adrenal hyperplasia HP:0008232 Elevated follicle stimulating hormone HP:0008233 Decreased serum progesterone HP:0008236 Isosexual precocious puberty HP:0008237 Hypothalamic hypothyroidism HP:0008239 Adrenal medullary hypoplasia HP:0008240 Secondary growth hormone deficiency HP:0008242 Pseudohypoaldosteronism HP:0008244 Congenital adrenal hypoplasia HP:0008245 Pituitary hypothyroidism HP:0008247 Euthyroid hyperthyroxinemia HP:0008249 Thyroid hyperplasia HP:0008250 Infantile hypercalcemia HP:0008251 Congenital goiter HP:0008255 Transient neonatal diabetes mellitus HP:0008256 Adrenocortical adenoma HP:0008258 Congenital adrenal hyperplasia HP:0008259 Adrenocorticotropin receptor defect HP:0008261 Pancreatic islet cell adenoma HP:0008263 Thyroid defect in oxidation and organification of iodide HP:0008264 Neutrophil inclusion bodies HP:0008265 Mitochondrial lysine transport defect HP:0008269 Increased red cell hemolysis by shear stress HP:0008271 Abnormal cartilage collagen HP:0008272 Renal tubular lysine transport defect HP:0008273 Transient aminoaciduria HP:0008275 Abnormal light-adapted electroretinogram HP:0008277 Abnormality of zinc homeostasis HP:0008278 Cerebellar cortical atrophy HP:0008279 Transient hyperlipidemia HP:0008281 Acute hyperammonemia HP:0008282 Unconjugated hyperbilirubinemia HP:0008283 Fasting hyperinsulinemia HP:0008285 Transient hypophosphatemia HP:0008288 Nonketotic hyperglycinemia HP:0008291 Pituitary corticotropic cell adenoma HP:0008293 Long-chain dicarboxylic aciduria HP:0008297 Transient hyperphenylalaninemia HP:0008301 Dermatan sulfate excretion in urine HP:0008303 Olivary degeneration HP:0008305 Exercise-induced myoglobinuria HP:0008306 Abnormal iron deposition in mitochondria HP:0008309 Medium chain dicarboxylic aciduria HP:0008311 Spinal cord posterior columns myelin loss HP:0008314 Decreased activity of mitochondrial complex II HP:0008315 Decreased plasma free carnitine HP:0008316 Abnormal mitochondria in muscle tissue HP:0008318 Elevated leukocyte alkaline phosphatase HP:0008320 Impaired collagen-induced platelet aggregation HP:0008321 Reduced factor X activity HP:0008322 Abnormal mitochondrial morphology HP:0008323 Abnormal light- and dark-adapted electroretinogram HP:0008326 Vitamin B6 deficiency HP:0008327 Microscopic nephrocalcinosis HP:0008330 Reduced von Willebrand factor activity HP:0008335 Renal aminoaciduria HP:0008336 Complex organic aciduria HP:0008339 Diaminoaciduria HP:0008341 Distal renal tubular acidosis HP:0008344 Elevated plasma branched chain amino acids HP:0008345 Hypoplasia of the iris dilator muscle HP:0008346 Increased red cell sickling tendency HP:0008347 Decreased activity of mitochondrial complex IV HP:0008348 Immunoglobulin IgG2 deficiency HP:0008352 Impaired platelet adhesion HP:0008353 Neutral hyperaminoaciduria HP:0008354 Factor X activation deficiency HP:0008356 Combined hyperlipidemia HP:0008357 Reduced factor XIII activity HP:0008358 Hyperprolinemia HP:0008360 Neonatal hypoproteinemia HP:0008361 Corticospinal tract pallor HP:0008362 Aplasia/Hypoplasia of the hallux HP:0008363 Aplasia/Hypoplasia of the tarsal bones HP:0008364 Abnormality of the calcaneus HP:0008366 Contractures involving the joints of the feet HP:0008368 Tarsal synostosis HP:0008372 Abnormality of vitamin A metabolism HP:0008376 Nasal, dysarthic speech HP:0008383 Slow-growing nails HP:0008386 Aplasia/Hypoplasia of the nails HP:0008388 Abnormality of the toenails HP:0008390 Recurrent loss of toenails and fingernails HP:0008391 Dystrophic fingernails HP:0008392 Subungual hyperkeratosis HP:0008393 Congenital curved nail of fourth toe HP:0008394 Congenital onychodystrophy HP:0008396 Chronic monilial nail infection HP:0008398 Hypoplastic fifth fingernail HP:0008399 Circumungual hyperkeratosis HP:0008400 Onycholysis of distal fingernails HP:0008401 Onychogryposis of toenails HP:0008402 Ridged fingernail HP:0008404 Nail dystrophy HP:0008407 Hyperconvex thumb nails HP:0008410 Subungual hyperkeratotic fragments HP:0008414 Lumbar kyphosis in infancy HP:0008416 Six lumbar vertebrae HP:0008417 Vertebral hypoplasia HP:0008418 Squared-off platyspondyly HP:0008419 Intervertebral disc degeneration HP:0008420 Punctate vertebral calcifications HP:0008421 Tall lumbar vertebral bodies HP:0008422 Vertebral wedging HP:0008423 Spinal dysplasia HP:0008424 Hypoplastic 5th lumbar vertebrae HP:0008425 Cuboid-shaped thoracolumbar vertebral bodies HP:0008428 Vertebral clefting HP:0008430 Anterior beaking of lumbar vertebrae HP:0008432 Anterior wedging of L1 HP:0008433 Reversed usual vertebral column curves HP:0008434 Hypoplastic cervical vertebrae HP:0008435 Absent in utero ossification of vertebral bodies HP:0008436 Absent/hypoplastic coccyx HP:0008437 Bifid thoracic vertebrae HP:0008438 Vertebral arch anomaly HP:0008439 Lumbar hemivertebrae HP:0008440 C1-C2 vertebral abnormality HP:0008441 Herniation of intervertebral nuclei HP:0008442 Vertebral hyperostosis HP:0008443 Spinal deformities HP:0008444 Posterior wedging of vertebral bodies HP:0008445 Cervical spinal canal stenosis HP:0008447 Hypoplastic coccygeal vertebrae HP:0008449 Progressive cervical vertebral spine fusion HP:0008450 Narrow vertebral interpedicular distance HP:0008451 Posterior vertebral hypoplasia HP:0008452 Wafer-thin platyspondyly HP:0008453 Congenital kyphoscoliosis HP:0008454 Lumbar kyphosis HP:0008455 Dysplastic sacrum HP:0008456 C2-C3 subluxation HP:0008457 Caudal interpedicular narrowing HP:0008458 Progressive congenital scoliosis HP:0008459 Cervical vertebral agenesis HP:0008460 Hypoplastic spinal processes HP:0008461 Cervical vertebral facet hypoplasia HP:0008462 Cervical instability HP:0008463 Central vertebral hypoplasia HP:0008464 Absent spinous processes of lower thoracic and lumbar vertebrae HP:0008465 Absent vertebra HP:0008467 Thoracic hemivertebrae HP:0008468 Abnormal sacral segmentation HP:0008469 Cervical vertebral dysplasia HP:0008470 Lower thoracic interpediculate narrowness HP:0008472 Prominent protruding coccyx HP:0008473 Narrow anterio-posterior vertebral body diameter HP:0008475 Hypoplastic sacral vertebrae HP:0008476 Irregular sclerotic endplates HP:0008477 Poorly ossified cervical vertebrae HP:0008478 Scheuermann-like vertebral changes HP:0008480 Cervical spondylosis HP:0008482 Asymmetry of spinal facet joints HP:0008483 Cervical vertebral bodies with decreased anteroposterior diameter HP:0008484 Thoracolumbar interpediculate narrowness HP:0008486 Lumbar interpedicular narrowing HP:0008488 Anterior rounding of vertebral bodies HP:0008489 Spondylolisthesis at L5-S1 HP:0008490 Sacral segmentation defect HP:0008491 Premature anterior fontanel closure HP:0008494 Inferior lens subluxation HP:0008496 Multiple rows of eyelashes HP:0008497 Congenital craniofacial dysostosis HP:0008498 No permanent dentition HP:0008499 High-grade hypermetropia HP:0008501 Median cleft lip and palate HP:0008504 Moderate sensorineural hearing impairment HP:0008507 Static ophthalmoparesis HP:0008509 Aged leonine appearance HP:0008511 Central posterior corneal opacity HP:0008513 Bilateral conductive hearing impairment HP:0008516 Abnormality of the vertebral spinous processes HP:0008517 Aplasia/Hypoplasia of the sacrum HP:0008519 Abnormality of the coccyx HP:0008523 Posterior helix pit HP:0008527 Congenital sensorineural hearing impairment HP:0008528 Long hairs growing from helix of pinna HP:0008529 Absence of acoustic reflex HP:0008537 Cleft at the superior portion of the pinna HP:0008541 Superiorly displaced ears HP:0008542 Low-frequency hearing loss HP:0008544 Abnormally folded helix HP:0008551 Microtia HP:0008554 Cochlear malformation HP:0008555 Absent vestibular function HP:0008559 Hypoplastic superior helix HP:0008568 Vestibular areflexia HP:0008569 Microtia, second degree HP:0008572 External ear malformation HP:0008573 Low-frequency sensorineural hearing impairment HP:0008577 Underfolded helix HP:0008583 Underfolded superior helices HP:0008586 Hypoplasia of the cochlea HP:0008587 Mild neurosensory hearing impairment HP:0008588 Slit-like opening of the exterior auditory meatus HP:0008589 Hypoplastic helices HP:0008591 Congenital conductive hearing impairment HP:0008593 Prominent antitragus HP:0008596 Postlingual sensorineural hearing impairment HP:0008605 Unilateral external ear deformity HP:0008606 Supraauricular pit HP:0008607 Progressive conductive hearing impairment HP:0008608 Hypertrophic auricular cartilage HP:0008609 Morphological abnormality of the middle ear HP:0008610 Infantile sensorineural hearing impairment HP:0008615 Adult onset sensorineural hearing impairment HP:0008619 Bilateral sensorineural hearing impairment HP:0008625 Severe sensorineural hearing impairment HP:0008628 Abnormality of the stapes HP:0008629 Pulsatile tinnitus HP:0008631 Ureteral dysgenesis HP:0008633 Absent gonadal tissue HP:0008635 Hypertrophy of the urinary bladder HP:0008636 Lobular glomerulopathy HP:0008639 Gonadal hypoplasia HP:0008640 Congenital macroorchidism HP:0008643 Nephroblastomatosis HP:0008648 Anteriorly displaced urethral meatus HP:0008651 Uric acid urolithiasis independent of gout HP:0008652 Autonomic erectile dysfunction HP:0008653 Crescentic glomerulonephritis HP:0008655 Aplasia/Hypoplasia of the fallopian tube HP:0008656 Incomplete male pseudohermaphroditism HP:0008659 Multiple small medullary renal cysts HP:0008660 Renotubular dysgenesis HP:0008661 Urethral stenosis HP:0008663 Renal sarcoma HP:0008664 Urethral sphincter sclerosis HP:0008665 Clitoral hypertrophy HP:0008666 Impaired histidine renal tubular absorption HP:0008668 Gonadal dysgenesis, male HP:0008669 Abnormal spermatogenesis HP:0008670 Partial vaginal septum HP:0008672 Calcium oxalate nephrolithiasis HP:0008675 Enlarged polycystic ovaries HP:0008676 Congenital megaureter HP:0008677 Congenital nephrotic syndrome HP:0008678 Renal hypoplasia/aplasia HP:0008682 Acute tubular necrosis HP:0008683 Enlarged labia minora HP:0008684 Aplasia/hypoplasia of the uterus HP:0008687 Hypoplasia of the prostate HP:0008689 Bilateral cryptorchidism HP:0008691 Solitary bladder diverticulum HP:0008695 Transient nephrotic syndrome HP:0008696 Renal hamartoma HP:0008697 Hypoplasia of the fallopian tube HP:0008703 Gonadal calcification HP:0008705 Ureteral triplication HP:0008706 Distal urethral duplication HP:0008707 Absent scrotum HP:0008708 Partial development of the penile shaft HP:0008711 Benign prostatic hyperplasia HP:0008714 Ureterovesical stenosis HP:0008715 Testicular dysgenesis HP:0008716 Urethrovaginal fistula HP:0008717 Unilateral renal atrophy HP:0008718 Unilateral renal dysplasia HP:0008720 Primary testicular failure HP:0008722 Urethral diverticulum HP:0008723 Gonadal dysgenesis with female appearance, male HP:0008724 Hypoplasia of the ovary HP:0008726 Hypoplasia of the vagina HP:0008729 Absence of labia majora HP:0008730 Female external genitalia in individual with 46,XY karyotype HP:0008732 Renal hypophosphatemia HP:0008733 Dysplastic testes HP:0008734 Decreased testicular size HP:0008736 Hypoplasia of penis HP:0008738 Partially duplicated kidney HP:0008739 Labial pseudohypertrophy HP:0008740 Longitudinal vaginal septum HP:0008742 Prominent prostate median bar HP:0008743 Coronal hypospadias HP:0008744 Abnormality of the aryepiglottic fold HP:0008747 Cartilaginous ossification of larynx HP:0008749 Laryngeal hypoplasia HP:0008750 Laryngeal atresia HP:0008751 Laryngeal cleft HP:0008753 Aplasia of the epiglottis HP:0008754 Laryngeal calcification HP:0008755 Laryngotracheomalacia HP:0008756 Bowing of the vocal cords HP:0008757 Unilateral vocal cord paralysis HP:0008760 Violent behavior HP:0008762 Repetitive compulsive behavior HP:0008763 No social interaction HP:0008765 Auditory hallucinations HP:0008767 Self-mutilation of tongue and lips due to involuntary movements HP:0008768 Inappropriate sexual behavior HP:0008770 Obsessive-compulsive trait HP:0008773 Aplasia/Hypoplasia of the middle ear HP:0008774 Aplasia/Hypoplasia of the inner ear HP:0008775 Abnormality of the prostate HP:0008777 Abnormality of the vocal cords HP:0008780 Congenital bilateral hip dislocation HP:0008783 Wide proximal femoral metaphysis HP:0008784 Wide capital femoral epiphyses HP:0008785 Delayed ossification of pubic rami HP:0008786 Iliac crest serration HP:0008788 Delayed pubic bone ossification HP:0008789 Cone-shaped capital femoral epiphysis HP:0008794 Dysplastic iliac wings HP:0008796 Externally rotated hips HP:0008797 Early ossification of capital femoral epiphyses HP:0008798 Widened sacrosciatic notch HP:0008800 Limited hip movement HP:0008801 Hypoplasia of the lesser trochanter HP:0008802 Hypoplasia of the femoral head HP:0008803 Narrow sacroiliac notch HP:0008807 Acetabular dysplasia HP:0008808 High iliac wings HP:0008812 Flattened femoral head HP:0008817 Aplastic pubic bones HP:0008818 Large iliac wings HP:0008819 Narrow femoral neck HP:0008820 Absent ossification of capital femoral epiphysis HP:0008821 Hypoplastic inferior ilia HP:0008822 Hypoplastic ischiopubic rami HP:0008823 Hypoplastic inferior pubic rami HP:0008824 Hypoplastic iliac body HP:0008826 Dislocation of the femoral head HP:0008828 Delayed proximal femoral epiphyseal ossification HP:0008829 Delayed femoral head ossification HP:0008830 Hypoplastic pubic rami HP:0008833 Irregular acetabular roof HP:0008835 Multicentric femoral head ossification HP:0008838 Stippled calcification proximal humeral epiphyses HP:0008839 Hypoplastic pelvis HP:0008843 Hip osteoarthritis HP:0008845 Mesomelic short stature HP:0008846 Severe intrauterine growth retardation HP:0008848 Moderately short stature HP:0008850 Severe postnatal growth retardation HP:0008855 Moderate postnatal growth retardation HP:0008857 Neonatal short-trunk short stature HP:0008866 Failure to thrive secondary to recurrent infections HP:0008872 Feeding difficulties in infancy HP:0008873 Disproportionate short-limb short stature HP:0008883 Mild intrauterine growth retardation HP:0008887 Adipose tissue loss HP:0008890 Severe short-limb dwarfism HP:0008905 Rhizomelia HP:0008909 Lethal short-limbed short stature HP:0008915 Childhood-onset truncal obesity HP:0008921 Neonatal short-limb short stature HP:0008922 Childhood-onset short-trunk short stature HP:0008929 Asymmetric short stature HP:0008935 Generalized neonatal hypotonia HP:0008936 Muscular hypotonia of the trunk HP:0008940 Generalized lymphadenopathy HP:0008942 Acute rhabdomyolysis HP:0008944 Distal lower limb amyotrophy HP:0008945 Loss of ability to walk in early childhood HP:0008946 Pelvic girdle amyotrophy HP:0008947 Infantile muscular hypotonia HP:0008948 Proximal upper limb amyotrophy HP:0008952 Shoulder muscle hypoplasia HP:0008953 Pectoralis major hypoplasia HP:0008954 Intrinsic hand muscle atrophy HP:0008955 Progressive distal muscular atrophy HP:0008956 Proximal lower limb amyotrophy HP:0008959 Distal upper limb muscle weakness HP:0008962 Calf muscle hypoplasia HP:0008963 Tibialis muscle weakness HP:0008964 Nonprogressive muscular atrophy HP:0008967 Exercise-induced muscle stiffness HP:0008968 Muscle hypertrophy of the lower extremities HP:0008969 Leg muscle stiffness HP:0008970 Scapulohumeral muscular dystrophy HP:0008972 Decreased activity of mitochondrial respiratory chain HP:0008978 Necrotizing myopathy HP:0008981 Calf muscle hypertrophy HP:0008984 Neck muscle hypoplasia HP:0008985 Increased intramuscular fat HP:0008986 Agenesis of the diaphragm HP:0008988 Pelvic girdle muscle atrophy HP:0008991 Exercise-induced leg cramps HP:0008993 Increased intraabdominal fat HP:0008994 Proximal muscle weakness in lower limbs HP:0008997 Proximal muscle weakness in upper limbs HP:0008998 Pectoralis hypoplasia HP:0009002 Loss of truncal subcutaneous adipose tissue HP:0009003 Increased subcutaneous truncal adipose tissue HP:0009004 Hypoplasia of the musculature HP:0009005 Weakness of the intrinsic hand muscles HP:0009011 Hypoplasia of serratus anterior muscle HP:0009013 Congenital absence of gluteal muscles HP:0009016 Upper limb muscle hypoplasia HP:0009017 Loss of gluteal subcutaneous adipose tissue HP:0009019 Progressive loss of facial adipose tissue HP:0009020 Exercise-induced muscle fatigue HP:0009023 Abdominal wall muscle weakness HP:0009025 Increased connective tissue HP:0009026 Hypoplasia of latissimus dorsi muscle HP:0009027 Foot dorsiflexor weakness HP:0009031 Amyotrophy of ankle musculature HP:0009037 Segmental spinal muscular atrophy HP:0009042 Marked muscular hypertrophy HP:0009045 Exercise-induced rhabdomyolysis HP:0009046 Difficulty running HP:0009049 Peroneal muscle atrophy HP:0009050 Quadriceps muscle atrophy HP:0009051 Increased muscle glycogen content HP:0009053 Distal lower limb muscle weakness HP:0009054 Scapuloperoneal myopathy HP:0009055 Generalized limb muscle atrophy HP:0009056 Loss of subcutaneous adipose tissue from upper limbs HP:0009058 Increased muscle lipid content HP:0009059 Congenital generalized lipodystrophy HP:0009060 Scapular muscle atrophy HP:0009062 Infantile axial hypotonia HP:0009063 Progressive distal muscle weakness HP:0009064 Generalized lipodystrophy HP:0009067 Progressive spinal muscular atrophy HP:0009069 Lethal infantile mitochondrial myopathy HP:0009071 Inflammatory myopathy HP:0009072 Decreased Achilles reflex HP:0009073 Progressive proximal muscle weakness HP:0009077 Weakness of long finger extensor muscles HP:0009084 Midline notch of upper alveolar ridge HP:0009085 Alveolar ridge overgrowth HP:0009087 Posteriorly placed tongue HP:0009088 Speech articulation difficulties HP:0009092 Progressive alveolar ridge hypertropy HP:0009094 Cleft lower alveolar ridge HP:0009098 Chronic oral candidiasis HP:0009099 Median cleft palate HP:0009100 Thick anterior alveolar ridges HP:0009101 Submucous cleft lip HP:0009102 Anterior open-bite malocclusion HP:0009103 Aplasia/Hypoplasia involving the pelvis HP:0009104 Aplasia/Hypoplasia of the pubic bone HP:0009106 Abnormal pelvis bone ossification HP:0009107 Abnormal ossification involving the femoral head and neck HP:0009109 Denervation of the diaphragm HP:0009110 Diaphragmatic eventration HP:0009112 Absent left hemidiaphragm HP:0009113 Diaphragmatic weakness HP:0009118 Aplasia/Hypoplasia of the mandible HP:0009124 Abnormality of adipose tissue HP:0009125 Lipodystrophy HP:0009126 Increased adipose tissue HP:0009129 Upper limb amyotrophy HP:0009130 Hand muscle atrophy HP:0009134 Osteolysis involving bones of the feet HP:0009141 Depletion of mitochondrial DNA in muscle tissue HP:0009145 Abnormality of cerebral artery HP:0009161 Aplasia/Hypoplasia of the middle phalanx of the 5th finger HP:0009162 Absent middle phalanx of 5th finger HP:0009164 Abnormal calcification of the carpal bones HP:0009177 Proximal/middle symphalangism of 5th finger HP:0009179 Deviation of the 5th finger HP:0009182 Triangular shaped middle phalanx of the 5th finger HP:0009183 Joint contracture of the 5th finger HP:0009184 Contracture of the distal interphalangeal joint of the 5th finger HP:0009185 Contracture of the proximal interphalangeal joint of the 5th finger HP:0009193 Pseudoepiphyses of the metacarpals HP:0009196 Absent metacarpal epiphyses HP:0009204 Bracket epiphysis of the middle phalanx of the 5th finger HP:0009237 Short 5th finger HP:0009239 Aplasia/Hypoplasia of the distal phalanx of the 5th finger HP:0009244 Distal/middle symphalangism of 5th finger HP:0009276 Contracture of the proximal interphalangeal joint of the 4th finger HP:0009279 Radial deviation of the 4th finger HP:0009280 Short 4th finger HP:0009290 Short distal phalanx of the 4th finger HP:0009319 Joint contracture of the 3rd finger HP:0009324 Enlarged epiphysis of the middle phalanx of the 3rd finger HP:0009331 Triangular epiphysis of the middle phalanx of the 3rd finger HP:0009349 Enlarged epiphysis of the proximal phalanx of the 3rd finger HP:0009356 Triangular epiphysis of the proximal phalanx of the 3rd finger HP:0009370 Type A brachydactyly HP:0009371 Type A1 brachydactyly HP:0009372 Type A2 brachydactyly HP:0009373 Type C brachydactyly HP:0009374 Broad phalanges of the 5th finger HP:0009380 Aplasia of the fingers HP:0009381 Short finger HP:0009417 Pseudoepiphyses of the 3rd finger HP:0009436 Triangular shaped middle phalanx of the 3rd finger HP:0009456 Triangular shaped proximal phalanx of the 3rd finger HP:0009461 Short 3rd finger HP:0009462 Radial deviation of the 3rd finger HP:0009463 Ulnar deviation of the 3rd finger HP:0009464 Ulnar deviation of the 2nd finger HP:0009465 Ulnar deviation of finger HP:0009466 Radial deviation of finger HP:0009467 Radial deviation of the 2nd finger HP:0009468 Deviation of the 2nd finger HP:0009471 Contracture of the proximal interphalangeal joint of the 3rd finger HP:0009473 Joint contracture of the hand HP:0009486 Radial deviation of the hand HP:0009487 Ulnar deviation of the hand HP:0009495 Pseudoepiphyses of the 2nd finger HP:0009514 Bracket epiphysis of the middle phalanx of the 2nd finger HP:0009516 Enlarged epiphysis of the middle phalanx of the 2nd finger HP:0009523 Triangular epiphysis of the middle phalanx of the 2nd finger HP:0009527 Enlarged epiphysis of the proximal phalanx of the 2nd finger HP:0009534 Triangular epiphysis of the proximal phalanx of the 2nd finger HP:0009536 Short 2nd finger HP:0009540 Contracture of the proximal interphalangeal joint of the 2nd finger HP:0009553 Abnormality of the hairline HP:0009554 Projection of scalp hair onto lateral cheek HP:0009555 Hypoplasia of the pharynx HP:0009565 Aplasia of the distal phalanx of the 2nd finger HP:0009566 Short distal phalanx of the 2nd finger HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger HP:0009575 Triangular shaped middle phalanx of the 2nd finger HP:0009576 Absent middle phalanx of 2nd finger HP:0009577 Short middle phalanx of the 2nd finger HP:0009587 Triangular shaped proximal phalanx of the 2nd finger HP:0009588 Vestibular Schwannoma HP:0009589 Bilateral vestibular Schwannoma HP:0009590 Unilateral vestibular Schwannoma HP:0009591 Abnormality of the vestibulocochlear nerve HP:0009592 Astrocytoma HP:0009593 Peripheral Schwannoma HP:0009594 Retinal hamartoma HP:0009595 Occasional neurofibromas HP:0009600 Flexion contracture of thumb HP:0009601 Aplasia/Hypoplasia of the thumb HP:0009603 Deviation of the thumb HP:0009606 Complete duplication of distal phalanx of the thumb HP:0009608 Complete duplication of proximal phalanx of the thumb HP:0009611 Bifid distal phalanx of the thumb HP:0009618 Abnormality of the proximal phalanx of the thumb HP:0009622 Distally placed thumb HP:0009623 Proximal placement of thumb HP:0009626 Contractures of the interphalangeal joint of the thumb HP:0009635 Synostosis of thumb phalanx HP:0009637 Absent proximal phalanx of thumb HP:0009638 Short proximal phalanx of thumb HP:0009642 Broad distal phalanx of the thumb HP:0009650 Short distal phalanx of the thumb HP:0009684 Stippling of the epiphysis of the distal phalanx of the thumb HP:0009693 Pseudoepiphysis of the thumb HP:0009700 Finger symphalangism HP:0009701 Metacarpal synostosis HP:0009702 Carpal synostosis HP:0009703 Synostosis involving the 1st metacarpal HP:0009704 Chronic CSF lymphocytosis HP:0009709 Increased CSF interferon alpha HP:0009710 Chilblain lesions HP:0009711 Retinal capillary hemangioma HP:0009713 Spinal hemangioblastoma HP:0009714 Abnormality of the epididymis HP:0009715 Papillary cystadenoma of the epididymis HP:0009716 Subependymal nodules HP:0009717 Cortical tubers HP:0009718 Subependymal giant-cell astrocytoma HP:0009719 Hypomelanotic macule HP:0009720 Adenoma sebaceum HP:0009721 Shagreen patch HP:0009722 Dental enamel pits HP:0009723 Abnormality of the subungual region HP:0009724 Subungual fibromas HP:0009725 Bladder neoplasm HP:0009726 Renal neoplasm HP:0009727 Achromatic retinal patches HP:0009729 Cardiac rhabdomyoma HP:0009730 Rhabdomyoma HP:0009732 Plexiform neurofibroma HP:0009733 Glioma HP:0009734 Optic glioma HP:0009735 Spinal neurofibromas HP:0009736 Tibial pseudoarthrosis HP:0009737 Lisch nodules HP:0009738 Abnormality of the antihelix HP:0009739 Hypoplasia of the antihelix HP:0009740 Aplasia of the parotid gland HP:0009741 Nephrosclerosis HP:0009742 Stiff shoulders HP:0009743 Distichiasis HP:0009745 Spinalarachnoid cyst HP:0009746 Thick nasal septum HP:0009747 Lumbosacral hirsutism HP:0009748 Large earlobe HP:0009751 Aplasia of the pectoralis major muscle HP:0009752 Cleft in skull base HP:0009754 Fibrous syngnathia HP:0009755 Ankyloblepharon HP:0009756 Popliteal pterygium HP:0009757 Intercrural pterygium HP:0009758 Pyramidal skinfold extending from the base to the top of the nails HP:0009759 Neck pterygia HP:0009760 Antecubital pterygium HP:0009761 Anterior clefting of vertebral bodies HP:0009762 Facial wrinkling HP:0009763 Limb pain HP:0009765 Low hanging columella HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand HP:0009768 Broad phalanges of the hand HP:0009769 Bullet-shaped phalanges of the hand HP:0009771 Osteolytic defects of the phalanges of the hand HP:0009772 Patchy sclerosis of finger phalanx HP:0009773 Symphalangism affecting the phalanges of the hand HP:0009775 Amniotic constriction ring HP:0009777 Absent thumb HP:0009778 Short thumb HP:0009779 3-4 toe syndactyly HP:0009780 Iliac horns HP:0009781 Lester's sign HP:0009783 Biceps aplasia HP:0009785 Triceps aplasia HP:0009788 Quadriceps aplasia HP:0009789 Perianal abscess HP:0009790 Hemisacrum HP:0009791 Bifid sacrum HP:0009792 Teratoma HP:0009793 Presacral teratoma HP:0009794 Branchial anomaly HP:0009795 Branchial fistula HP:0009796 Branchial cyst HP:0009797 Cholesteatoma HP:0009798 Euthyroid goiter HP:0009800 Maternal diabetes HP:0009802 Aplasia of the phalanges of the hand HP:0009803 Short phalanx of finger HP:0009804 Reduced number of teeth HP:0009805 Low-output congestive heart failure HP:0009806 Nephrogenic diabetes insipidus HP:0009811 Abnormality of the elbow HP:0009812 Amelia involving the upper limbs HP:0009813 Upper limb phocomelia HP:0009814 Upper limb peromelia HP:0009815 Aplasia/hypoplasia of the extremities HP:0009816 Lower limb undergrowth HP:0009818 Amelia involving the lower limbs HP:0009819 Lower limb phocomelia HP:0009820 Lower limb peromelia HP:0009821 Forearm undergrowth HP:0009824 Upper limb undergrowth HP:0009827 Amelia HP:0009829 Phocomelia HP:0009830 Peripheral neuropathy HP:0009831 Mononeuropathy HP:0009832 Abnormality of the distal phalanx of finger HP:0009834 Abnormality of the proximal phalanges of the hand HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand HP:0009836 Broad distal phalanx of finger HP:0009838 Curved distal phalanges of the hand HP:0009839 Osteolytic defects of the distal phalanges of the hand HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand HP:0009844 Broad middle phalanx of finger HP:0009845 Bullet-shaped middle phalanges of the hand HP:0009847 Osteolytic defects of the middle phalanges of the hand HP:0009852 Broad proximal phalanges of the hand HP:0009855 Osteolytic defects of the proximal phalanges of the hand HP:0009857 Symphalangism affecting the proximal phalanges of the hand HP:0009875 Triangular shaped distal phalanges of the hand HP:0009879 Cortical gyral simplification HP:0009880 Broad distal phalanges of all fingers HP:0009882 Short distal phalanx of finger HP:0009883 Duplication of the distal phalanx of hand HP:0009884 Tapered distal phalanges of finger HP:0009886 Trichorrhexis nodosa HP:0009887 Abnormality of hair pigmentation HP:0009888 Abnormality of secondary sexual hair HP:0009890 High anterior hairline HP:0009891 Underdeveloped supraorbital ridges HP:0009892 Anotia HP:0009894 Thickened ears HP:0009896 Abnormality of the antitragus HP:0009899 Prominent crus of helix HP:0009900 Unilateral deafness HP:0009901 Crumpled ear HP:0009903 Conjunctival nodule HP:0009906 Aplasia/Hypoplasia of the earlobes HP:0009907 Attached earlobe HP:0009908 Anterior creases of earlobe HP:0009909 Uplifted earlobe HP:0009911 Abnormality of the temporal bone HP:0009912 Abnormality of the tragus HP:0009914 Cyclopia HP:0009916 Anisocoria HP:0009917 Persistent pupillary membrane HP:0009918 Ectopia pupillae HP:0009919 Retinoblastoma HP:0009920 Nevus of Ota HP:0009921 Duane anomaly HP:0009922 Vascular remnant arising from the disc HP:0009924 Aplasia/Hypoplasia involving the nose HP:0009926 Increased lacrimation HP:0009927 Aplasia of the nose HP:0009928 Thick nasal alae HP:0009929 Abnormality of the columella HP:0009932 Single naris HP:0009933 Narrow naris HP:0009934 Supernumerary naris HP:0009937 Facial hirsutism HP:0009938 Sunken cheeks HP:0009939 Mandibular aplasia HP:0009940 Asymmetry of the mandible HP:0009941 Asymmetry of the mouth HP:0009942 Duplication of thumb phalanx HP:0009943 Complete duplication of thumb phalanx HP:0009944 Partial duplication of thumb phalanx HP:0009951 Partial duplication of the distal phalanx of the 2nd finger HP:0009968 Partial duplication of the distal phalanx of the 3rd finger HP:0009988 Duplication of the distal phalanx of the 5th finger HP:0010001 Complete duplication of the distal phalanges of the hand HP:0010017 Cone-shaped epiphysis of the 1st metacarpal HP:0010026 Aplasia/Hypoplasia of the 1st metacarpal HP:0010027 Broad 1st metacarpal HP:0010034 Short 1st metacarpal HP:0010035 Aplasia of the 1st metacarpal HP:0010038 Short 2nd metacarpal HP:0010041 Short 3rd metacarpal HP:0010044 Short 4th metacarpal HP:0010046 Aplasia of the 5th metacarpal HP:0010047 Short 5th metacarpal HP:0010048 Aplasia of metacarpal bones HP:0010049 Short metacarpal HP:0010052 Abnormality of the proximal phalanx of the hallux HP:0010054 Abnormality of the first metatarsal bone HP:0010055 Broad hallux HP:0010058 Aplasia/Hypoplasia of the phalanges of the hallux HP:0010059 Broad hallux phalanx HP:0010064 Symphalangism affecting the phalanges of the hallux HP:0010066 Duplication of phalanx of hallux HP:0010068 Broad first metatarsal HP:0010076 Aplasia/Hypoplasia of the distal phalanx of the hallux HP:0010077 Broad distal phalanx of the hallux HP:0010078 Bullet-shaped distal phalanx of the hallux HP:0010085 Aplasia/Hypoplasia of the proximal phalanx of the hallux HP:0010093 Duplication of the proximal phalanx of the hallux HP:0010097 Partial duplication of the distal phalanx of the hallux HP:0010098 Complete duplication of the 1st metatarsal HP:0010101 Partial duplication of the phalanges of the hallux HP:0010104 Absent first metatarsal HP:0010105 Short first metatarsal HP:0010109 Short hallux HP:0010112 Mesoaxial foot polydactyly HP:0010164 Cone-shaped epiphyses of the toes HP:0010168 Ivory epiphyses of the toes HP:0010173 Aplasia/Hypoplasia of the phalanges of the toes HP:0010174 Broad phalanx of the toes HP:0010179 Symphalangism affecting the phalanges of the toes HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes HP:0010186 Broad distal phalanx of the toes HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes HP:0010219 Structural foot deformity HP:0010230 Cone-shaped epiphyses of the phalanges of the hand HP:0010231 Enlarged epiphyses of the phalanges of the hand HP:0010234 Ivory epiphyses of the phalanges of the hand HP:0010236 Small epiphyses of the phalanges of the hand HP:0010239 Aplasia of the middle phalanx of the hand HP:0010241 Short proximal phalanx of finger HP:0010242 Aplasia of the proximal phalanges of the hand HP:0010252 Ivory epiphyses of the distal phalanges of the hand HP:0010259 Cone-shaped epiphyses of the middle phalanges of the hand HP:0010270 Cone-shaped epiphyses of the proximal phalanges of the hand HP:0010275 Pseudoepiphyses of the proximal phalanges of the hand HP:0010280 Stomatitis HP:0010281 Cleft lower lip HP:0010282 Thin lower lip vermilion HP:0010284 Intra-oral hyperpigmentation HP:0010285 Oral synechia HP:0010286 Abnormality of the salivary glands HP:0010287 Abnormality of the submandibular glands HP:0010290 Short hard palate HP:0010291 Prominent palatine ridges HP:0010292 Absent uvula HP:0010293 Aplasia/Hypoplasia of the uvula HP:0010294 Palate fistula HP:0010296 Ankyloglossia HP:0010297 Bifid tongue HP:0010298 Smooth tongue HP:0010299 Abnormality of dentin HP:0010300 Abnormally low-pitched voice HP:0010301 Spinal dysraphism HP:0010302 Spinal cord tumor HP:0010305 Absence of the sacrum HP:0010306 Short thorax HP:0010307 Stridor HP:0010309 Bifid sternum HP:0010310 Chylothorax HP:0010311 Aplasia/Hypoplasia of the breasts HP:0010312 Asymmetry of the breasts HP:0010313 Breast hypertrophy HP:0010314 Premature thelarche HP:0010316 Ebstein's anomaly of the tricuspid valve HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature HP:0010322 Abnormality of the 5th toe HP:0010326 Deviation of the 2nd toe HP:0010327 Flexion contracture of the 2nd toe HP:0010331 Aplasia/Hypoplasia of the 3rd toe HP:0010339 Flexion contracture of the 4th toe HP:0010432 Absent distal phalanx of the 2nd toe HP:0010438 Abnormality of the ventricular septum HP:0010442 Polydactyly HP:0010443 Bifid femur HP:0010444 Pulmonary insufficiency HP:0010445 Primum atrial septal defect HP:0010446 Tricuspid stenosis HP:0010447 Anal fistula HP:0010448 Colonic atresia HP:0010451 Aplasia/Hypoplasia of the spleen HP:0010452 Ectopia of the spleen HP:0010453 Pelvic bone asymmetry HP:0010454 Acetabular spurs HP:0010455 Steep acetabular roof HP:0010458 Female pseudohermaphroditism HP:0010459 True hermaphroditism HP:0010463 Aplasia of the ovary HP:0010464 Streak ovary HP:0010465 Precocious puberty in females HP:0010468 Aplasia/Hypoplasia of the testes HP:0010469 Absent testis HP:0010470 Supernumerary testes HP:0010471 Oligosacchariduria HP:0010472 Abnormality of the heme biosynthetic pathway HP:0010473 Porphyrinuria HP:0010474 Bladder stones HP:0010475 Cloacal exstrophy HP:0010477 Aplasia of the bladder HP:0010478 Abnormality of the urachus HP:0010479 Patent urachus HP:0010480 Urethral fistula HP:0010481 Urethral valve HP:0010484 Hypertrophy of the upper limb HP:0010485 Hyperextensibility at elbow HP:0010486 Abnormality of the hypothenar eminence HP:0010487 Small hypothenar eminence HP:0010489 Absent palmar crease HP:0010491 Digital constriction ring HP:0010492 Osseous finger syndactyly HP:0010493 Long metacarpals HP:0010494 Acromelia of the lower limbs HP:0010496 Hypertrophy of the lower limb HP:0010497 Sirenomelia HP:0010499 Patellar subluxation HP:0010500 Hyperextensibility of the knee HP:0010501 Limitation of knee mobility HP:0010502 Fibular bowing HP:0010503 Fibular duplication HP:0010506 Abnormal plantar dermatoglyphics HP:0010508 Metatarsus valgus HP:0010509 Aplasia of the tarsal bones HP:0010511 Long toe HP:0010512 Adrenal calcification HP:0010513 Pituitary calcification HP:0010514 Hyperpituitarism HP:0010515 Aplasia/Hypoplasia of the thymus HP:0010516 Thymus hyperplasia HP:0010517 Ectopic thymus tissue HP:0010518 Thyroglossal cyst HP:0010521 Gait apraxia HP:0010522 Dyslexia HP:0010523 Alexia HP:0010524 Agnosia HP:0010525 Finger agnosia HP:0010526 Dysgraphia HP:0010527 Astereognosia HP:0010528 Prosopagnosia HP:0010529 Echolalia HP:0010530 Palatal myoclonus HP:0010531 Spinal myoclonus HP:0010532 Paroxysmal vertigo HP:0010533 Spasmus nutans HP:0010534 Transient global amnesia HP:0010535 Sleep apnea HP:0010536 Central sleep apnea HP:0010537 Wide cranial sutures HP:0010538 Small sella turcica HP:0010539 Thin calvarium HP:0010541 Cutis gyrata of scalp HP:0010542 Vestibular nystagmus HP:0010543 Opsoclonus HP:0010544 Vertical nystagmus HP:0010545 Downbeat nystagmus HP:0010546 Muscle fibrillation HP:0010547 Muscle flaccidity HP:0010548 Percussion myotonia HP:0010550 Paraplegia HP:0010551 Paraplegia/paraparesis HP:0010553 Oculogyric crisis HP:0010554 Cutaneous finger syndactyly HP:0010557 Overlapping fingers HP:0010559 Vertical clivus HP:0010560 Undulate clavicles HP:0010561 Undulate ribs HP:0010562 Keloids HP:0010564 Bifid epiglottis HP:0010566 Hamartoma HP:0010568 Hamartoma of the eye HP:0010569 Elevated 7-dehydrocholesterol HP:0010571 Elevated levels of phytanic acid HP:0010574 Abnormality of the epiphysis of the femoral head HP:0010575 Dysplasia of the femoral head HP:0010576 Intracranial cystic lesion HP:0010578 Bracket epiphyses HP:0010579 Cone-shaped epiphysis HP:0010580 Enlarged epiphyses HP:0010582 Irregular epiphyses HP:0010583 Ivory epiphyses HP:0010584 Pseudoepiphyses HP:0010585 Small epiphyses HP:0010591 Abnormality of the proximal tibial epiphysis HP:0010602 Type 2 muscle fiber predominance HP:0010603 Odontogenic keratocysts of the jaw HP:0010604 Cyst of the eyelid HP:0010605 Chalazion HP:0010606 Hordeolum HP:0010607 Hordeolum externum HP:0010609 Skin tags HP:0010610 Palmar pits HP:0010612 Plantar pits HP:0010614 Fibroma HP:0010615 Angiofibromas HP:0010616 Lung fibroma HP:0010617 Cardiac fibroma HP:0010618 Ovarian fibroma HP:0010619 Fibroadenoma of the breast HP:0010620 Malar prominence HP:0010621 Cutaneous syndactyly of toes HP:0010622 Neoplasm of the skeletal system HP:0010624 Aplastic/hypoplastic toenail HP:0010625 Anterior pituitary dysgenesis HP:0010626 Anterior pituitary agenesis HP:0010627 Anterior pituitary hypoplasia HP:0010628 Facial palsy HP:0010632 Total anosmia HP:0010633 Partial anosmia HP:0010636 Schizencephaly HP:0010637 Conjunctival amyloidosis HP:0010639 Elevated alkaline phosphatase of bone origin HP:0010640 Abnormality of the nasal cavity HP:0010644 Midnasal stenosis HP:0010646 Cervical spine instability HP:0010648 Dermal translucency HP:0010649 Flat nasal alae HP:0010650 Hypoplasia of the premaxilla HP:0010651 Abnormality of the meninges HP:0010653 Abnormality of the falx cerebri HP:0010655 Epiphyseal stippling HP:0010656 Abnormal epiphyseal ossification HP:0010659 Patchy variation in bone mineral density HP:0010660 Abnormal hand bone ossification HP:0010662 Abnormality of the diencephalon HP:0010663 Abnormality of thalamus morphology HP:0010664 Fusion of the left and right thalami HP:0010665 Bilateral coxa valga HP:0010675 Abnormal foot bone ossification HP:0010676 Mechanical ileus HP:0010677 Enuresis nocturna HP:0010679 Elevated tissue non-specific alkaline phosphatase HP:0010689 Mirror image polydactyly HP:0010693 Pulverulent cataract HP:0010695 Sutural cataract HP:0010696 Polar cataract HP:0010700 Total cataract HP:0010701 Abnormal immunoglobulin level HP:0010702 Increased antibody level in blood HP:0010705 4-5 finger syndactyly HP:0010708 1-5 finger syndactyly HP:0010709 2-4 finger syndactyly HP:0010713 1-5 toe syndactyly HP:0010714 2-4 toe syndactyly HP:0010719 Abnormality of hair texture HP:0010720 Abnormal hair pattern HP:0010721 Abnormal hair whorl HP:0010722 Asymmetry of the ears HP:0010723 Cystic lesions of the pinnae HP:0010724 Advanced pneumatization of the mastoid process HP:0010727 Spontaneous rupture of the globe HP:0010729 Cherry red spot of the macula HP:0010730 Double eyebrow HP:0010734 Fibrous dysplasia of the bones HP:0010735 Polyostotic fibrous dysplasia HP:0010736 Monostotic fibrous dysplasia HP:0010739 Osteopoikilosis HP:0010740 Osteopathia striata HP:0010741 Edema of the lower limbs HP:0010742 Edema of the upper limbs HP:0010743 Short metatarsal HP:0010744 Absent metatarsal bone HP:0010745 Aplasia of the phalanges of the toes HP:0010747 Medial flaring of the eyebrow HP:0010748 Ectopic lacrimal punctum HP:0010749 Blepharochalasis HP:0010750 Dermatochalasis HP:0010751 Dimple chin HP:0010752 Cleft mandible HP:0010754 Abnormality of the temporomandibular joint HP:0010755 Asymmetry of the maxilla HP:0010758 Abnormality of the premaxilla HP:0010759 Prominence of the premaxilla HP:0010761 Broad columella HP:0010762 Chordoma HP:0010764 Short eyelashes HP:0010765 Palmar hyperkeratosis HP:0010766 Ectopic calcification HP:0010767 Sacrococcygeal pilonidal abnormality HP:0010769 Pilonidal sinus HP:0010770 Pilonidal fistula HP:0010772 Anomalous pulmonary venous return HP:0010775 Vascular ring HP:0010776 Tracheobronchmegaly HP:0010778 Tracheomegaly HP:0010779 Large pelvis bone HP:0010780 Hyperacusis HP:0010781 Skin dimples HP:0010783 Erythema HP:0010784 Uterine neoplasm HP:0010785 Gonadal neoplasm HP:0010786 Urinary tract neoplasm HP:0010787 Genital neoplasm HP:0010788 Testicular neoplasm HP:0010789 Abnormality of the Leydig cells HP:0010790 Hyoplasia of the Leydig cells HP:0010791 Hyperplasia of the Leydig cells HP:0010794 Impaired visuospatial constructive cognition HP:0010795 Cerebellar glioma HP:0010796 Brainstem glioma HP:0010797 Hemangioblastoma HP:0010799 Pinealoma HP:0010802 Perioral hyperpigmentation HP:0010803 Everted upper lip vermilion HP:0010804 Tented upper lip vermilion HP:0010805 Upturned corners of mouth HP:0010806 U-Shaped upper lip vermilion HP:0010807 Open bite HP:0010808 Protruding tongue HP:0010809 Broad uvula HP:0010815 Nevus sebaceous HP:0010816 Epidermal nevus HP:0010817 Linear nevus sebaceous HP:0010818 Generalized tonic seizures HP:0010819 Atonic seizures HP:0010821 Gelastic seizures HP:0010822 Scintillating scotoma HP:0010826 Abnormality of the twelfth cranial nerve HP:0010828 Hemifacial spasm HP:0010829 Impaired temperature sensation HP:0010830 Impaired tactile sensation HP:0010831 Impaired proprioception HP:0010832 Abnormality of pain sensation HP:0010833 Spontaneous pain sensation HP:0010834 Trophic changes related to pain HP:0010835 Dissociated sensory loss HP:0010836 Abnormality of copper homeostasis HP:0010837 Decreased serum ceruloplasmin HP:0010838 High nonceruloplasmin-bound serum copper HP:0010839 Increased urinary copper concentration HP:0010841 Multifocal epileptiform discharges HP:0010844 EEG with multifocal slow activity HP:0010845 EEG with generalized slow activity HP:0010849 EEG with spike-wave complexes (>3.5 Hz) HP:0010850 EEG with spike-wave complexes HP:0010851 EEG with burst suppression HP:0010852 EEG with photoparoxysmal response HP:0010856 EEG with periodic complexes HP:0010862 Delayed fine motor development HP:0010863 Receptive language delay HP:0010864 Intellectual disability, severe HP:0010865 Oppositional defiant disorder HP:0010866 Abdominal wall defect HP:0010867 Dyssynergia HP:0010871 Sensory ataxia HP:0010873 Cervical spinal cord atrophy HP:0010874 Tendon xanthomatosis HP:0010875 Chaddock reflex HP:0010876 Abnormality of circulating protein level HP:0010877 Unilateral strabismus HP:0010878 Fetal cystic hygroma HP:0010880 Increased nuchal translucency HP:0010881 Abnormality of the umbilical cord HP:0010882 Pulmonary valve atresia HP:0010883 Aortic valve atresia HP:0010884 Acromelia HP:0010885 Aseptic necrosis HP:0010886 Osteochondritis Dissecans HP:0010889 Morbus Kienboeck HP:0010890 Morbus Osgood-Schlatter HP:0010891 Morbus Scheuermann HP:0010892 Abnormality of branched chain family amino acid metabolism HP:0010896 Hypersarcosinemia HP:0010901 Abnormality of methionine metabolism HP:0010903 Abnormality of glutamine metabolism HP:0010904 Abnormality of histidine metabolism HP:0010906 Hyperhistidinemia HP:0010910 Hypervalinemia HP:0010911 Hyperleucinemia HP:0010917 Abnormality of tyrosine metabolism HP:0010920 Zonular cataract HP:0010922 Membranous cataract HP:0010923 Anterior subcapsular cataract HP:0010934 Xanthinuria HP:0010935 Abnormality of the upper urinary tract HP:0010939 Abnormality of the nasal bone HP:0010940 Aplasia/Hypoplasia of the nasal bone HP:0010942 Echogenic intracardiac focus HP:0010943 Echogenic fetal bowel HP:0010950 Abnormality of the fourth ventricle HP:0010952 Mild fetal ventriculomegaly HP:0010953 Noncommunicating hydrocephalus HP:0010954 Hypoplastic right heart HP:0010955 Dilatation of the bladder HP:0010956 Fetal megacystis HP:0010957 Congenital posterior urethral valve HP:0010958 Bilateral renal agenesis HP:0010959 Congenital cystic adenomatoid malformation of the lung HP:0010961 Intralobar sequestration HP:0010962 Extralobar sequestration HP:0010964 Abnormality of long-chain fatty-acid metabolism HP:0010970 Blood group antigen abnormality HP:0010972 Anemia of inadequate production HP:0010975 Abnormality of B cell number HP:0010976 B lymphocytopenia HP:0010977 Abnormality of phagocytes HP:0010978 Abnormality of immune system physiology HP:0010980 Hyperlipoproteinemia HP:0010981 Hypolipoproteinemia HP:0010987 Abnormality of cellular immune system HP:0010989 Abnormality of the intrinsic pathway HP:0010991 Abnormality of the abdominal musculature HP:0010992 Stress urinary incontinence HP:0010994 Abnormality of the striatum HP:0010997 Chromosomal breakage induced by ionizing radiation HP:0010999 Aplasia of the optic tract HP:0011001 Increased bone mineral density HP:0011002 Osteopetrosis HP:0011003 Severe Myopia HP:0011004 Abnormality of the systemic arterial tree HP:0011005 Mixed cirrhosis HP:0011012 Abnormality of polysaccharide metabolism HP:0011014 Abnormal glucose homeostasis HP:0011018 Abnormality of the cell cycle HP:0011020 Abnormality of mucopolysaccharide metabolism HP:0011021 Abnormality of circulating enzyme level HP:0011024 Abnormality of the gastrointestinal tract HP:0011025 Abnormality of cardiovascular system physiology HP:0011027 Abnormality of the fallopian tube HP:0011028 Abnormality of blood circulation HP:0011029 Internal hemorrhage HP:0011031 Abnormality of iron homeostasis HP:0011033 Impairment of fructose metabolism HP:0011034 Amyloidosis HP:0011036 Abnormality of renal excretion HP:0011037 Decreased urine output HP:0011038 Abnormality of renal resorption HP:0011039 Abnormality of the helix HP:0011040 Abnormality of the intrahepatic bile duct HP:0011043 Abnormality of circulating adrenocorticotropin level HP:0011044 Abnormal number of permanent teeth HP:0011051 Agenesis of premolar HP:0011054 Agenesis of molar HP:0011058 Generalized periodontitis HP:0011059 Localized periodontitis HP:0011060 Dentinogenesis imperfecta limited to primary teeth HP:0011063 Abnormality of incisor morphology HP:0011065 Conical incisor HP:0011067 Mesiodens HP:0011068 Odontoma HP:0011069 Increased number of teeth HP:0011072 Rootless teeth HP:0011073 Abnormality of dental color HP:0011075 Green teeth HP:0011077 Abnormality of molar HP:0011078 Abnormality of canine HP:0011079 Impacted tooth HP:0011082 Conical primary incisor HP:0011085 Hypomature dental enamel HP:0011087 Talon cusp HP:0011088 Dens in dente HP:0011089 Double tooth HP:0011090 Fused teeth HP:0011091 Gemination HP:0011093 Molarization of premolar HP:0011094 Overbite HP:0011095 Overjet HP:0011096 Peripheral demyelination HP:0011097 Epileptic spasms HP:0011098 Speech apraxia HP:0011099 Spastic hemiparesis HP:0011100 Intestinal atresia HP:0011102 Ileal atresia HP:0011103 Abnormality of the left ventricular outflow tract HP:0011105 Hypervolemia HP:0011106 Hypovolemia HP:0011107 Recurrent aphthous stomatitis HP:0011108 Recurrent sinusitis HP:0011109 Chronic sinusitis HP:0011110 Tonsillitis HP:0011113 Abnormality of cytokine secretion HP:0011118 Abnormality of tumor necrosis factor secretion HP:0011120 Concave nasal ridge HP:0011121 Abnormality of skin morphology HP:0011122 Abnormality of skin physiology HP:0011123 Inflammatory abnormality of the skin HP:0011126 Nephroptosis HP:0011127 Perioral eczema HP:0011128 Acute esophageal necrosis HP:0011131 Perianal rash HP:0011132 Chronic furunculosis HP:0011133 Increased sensitivity to ionizing radiation HP:0011134 Low-grade fever HP:0011136 Aplasia of the sweat glands HP:0011139 Gastric duplication HP:0011140 Gastrointestinal duplication HP:0011141 Age-related cataract HP:0011145 Symptomatic seizures HP:0011146 Dialeptic seizures HP:0011147 Typical absence seizures HP:0011150 Myoclonic absences HP:0011151 Obtundation status HP:0011153 Focal motor seizures HP:0011157 Auras HP:0011158 Auditory auras HP:0011159 Epigastric auras HP:0011165 Visual auras HP:0011166 Focal myoclonic seizures HP:0011167 Focal tonic seizures HP:0011168 Eyelid myoclonias HP:0011169 Generalized clonic seizures HP:0011170 Myoclonic atonic seizures HP:0011171 Simple febrile seizures HP:0011172 Complex febrile seizures HP:0011174 Hyperkinetic seizures HP:0011175 Versive seizures HP:0011178 Alpha-EEG HP:0011179 Beta-EEG HP:0011181 Low voltage EEG HP:0011182 Epileptiform EEG discharges HP:0011193 EEG with focal spikes HP:0011195 EEG with focal sharp slow waves HP:0011203 EEG with abnormally slow frequencies HP:0011204 EEG with continuous slow activity HP:0011217 Abnormal shape of the occiput HP:0011219 Short face HP:0011220 Prominent forehead HP:0011221 Vertical forehead creases HP:0011223 Metopic depression HP:0011224 Ablepharon HP:0011225 Epiblepharon HP:0011227 Elevated C-reactive protein level HP:0011228 Horizontal eyebrow HP:0011229 Broad eyebrow HP:0011231 Prominent eyelashes HP:0011232 Infra-orbital fold HP:0011234 Absent antihelix HP:0011246 Underdeveloped superior crus of antihelix HP:0011251 Underdeveloped antitragus HP:0011252 Cryptotia HP:0011265 Cleft earlobe HP:0011266 Microtia, first degree HP:0011267 Microtia, third degree HP:0011268 Absent tragus HP:0011272 Underdeveloped tragus HP:0011273 Anisocytosis HP:0011274 Recurrent mycobacterial infections HP:0011275 Recurrent mycobacterium avium complex infections HP:0011276 Vascular skin abnormality HP:0011277 Abnormality of the urinary system physiology HP:0011278 Intrapulmonary sequestration HP:0011285 Long-segment aganglionic megacolon HP:0011286 Total colonic aganglionosis HP:0011297 Abnormality of digit HP:0011300 Broad fingertip HP:0011301 Absent foot HP:0011302 Long palm HP:0011304 Broad thumb HP:0011305 Partial absence of toe HP:0011308 Slender toe HP:0011309 Tapered toe HP:0011310 Bridged palmar crease HP:0011313 Narrow nail HP:0011314 Abnormality of long bone morphology HP:0011315 Unicoronal synostosis HP:0011318 Bicoronal synostosis HP:0011323 Cleft of chin HP:0011324 Multiple suture craniosynostosis HP:0011325 Pansynostosis HP:0011327 Posterior plagiocephaly HP:0011328 Abnormality of fontanelles HP:0011329 Abnormality of cranial sutures HP:0011330 Metopic synostosis HP:0011331 Hemifacial atrophy HP:0011332 Hemifacial hypoplasia HP:0011333 Asymmetric crying face HP:0011334 Facial shape deformation HP:0011335 Frontal hirsutism HP:0011336 Bitemporal forceps marks HP:0011338 Abnormality of mouth shape HP:0011339 Abnormality of upper lip vermillion HP:0011340 Incomplete cleft of the upper lip HP:0011341 Long upper lip HP:0011342 Mild global developmental delay HP:0011343 Moderate global developmental delay HP:0011344 Severe global developmental delay HP:0011349 Abducens palsy HP:0011351 Moderate receptive language delay HP:0011353 Arterial intimal fibrosis HP:0011354 Generalized abnormality of skin HP:0011355 Localized skin lesion HP:0011356 Regional abnormality of skin HP:0011357 Abnormality of hair density HP:0011358 Generalized hypopigmentation of hair HP:0011359 Dry hair HP:0011362 Abnormal hair quantity HP:0011363 Abnormality of hair growth rate HP:0011364 White hair HP:0011365 Patchy hypopigmentation of hair HP:0011367 Yellow nails HP:0011368 Epidermal thickening HP:0011372 Aplasia of the inner ear HP:0011375 Cochlear aplasia HP:0011379 Dilated vestibule of the inner ear HP:0011380 Morphological abnormality of the semicircular canal HP:0011381 Aplasia of the semicircular canal HP:0011382 Hypoplasia of the semicircular canal HP:0011384 Abnormality of the internal auditory canal HP:0011386 Narrow internal auditory canal HP:0011387 Enlarged vestibular aqueduct HP:0011388 Enlarged cochlear aqueduct HP:0011396 Abnormality of the cochlear nerve HP:0011397 Abnormality of the dorsal column of the spinal cord HP:0011398 Central hypotonia HP:0011399 Tibialis atrophy HP:0011400 Abnormal CNS myelination HP:0011401 Delayed peripheral myelination HP:0011402 Demyelinating sensory neuropathy HP:0011403 Abnormal umbilical cord blood vessels HP:0011405 Childhood onset short-limb short stature HP:0011407 Proportionate tall stature HP:0011408 Moderate intrauterine growth retardation HP:0011410 Caesarian section HP:0011411 Forceps delivery HP:0011413 Shoulder dystocia HP:0011414 Hydropic placenta HP:0011416 Placental infarction HP:0011418 Abnormal insertion of umbilical cord HP:0011419 Placental abruption HP:0011423 Hyperchloremia HP:0011424 Increased serum zinc HP:0011431 Fetal fifth finger clinodactyly HP:0011433 High maternal serum chorionic gonadotropin HP:0011434 Low maternal serum chorionic gonadotropin HP:0011436 Abnormal maternal serum screening HP:0011437 Maternal autoimmune disease HP:0011438 Maternal teratogenic exposure HP:0011439 Anesthetic-induced rhabdomylosis HP:0011440 Alcohol-induced rhabdomyolysis HP:0011441 Abnormality of the medulla oblongata HP:0011442 Abnormality of central motor function HP:0011444 Decorticate rigidity HP:0011445 Athetoid cerebral palsy HP:0011446 Abnormality of higher mental function HP:0011447 Hyposegmentation of neutrophil nuclei HP:0011448 Ankle clonus HP:0011449 Knee clonus HP:0011450 CNS infection HP:0011451 Congenital microcephaly HP:0011453 Abnormality of the incus HP:0011454 Abnormality of the malleus HP:0011457 Loss of eyelashes HP:0011458 Abdominal symptom HP:0011459 Esophageal carcinoma HP:0011466 Aplasia/Hypoplasia of the gallbladder HP:0011467 Absent gallbladder HP:0011468 Facial tics HP:0011469 Nasal regurgitation HP:0011471 Gastrostomy tube feeding in infancy HP:0011473 Villous atrophy HP:0011475 Persistent stapedial artery HP:0011476 Profound sensorineural hearing impairment HP:0011477 Upbeat nystagmus HP:0011478 True anophthalmia HP:0011480 Unilateral microphthalmos HP:0011481 Abnormality of the lacrimal duct HP:0011483 Anterior synechiae of the anterior chamber HP:0011484 Posterior synechiae of the anterior chamber HP:0011487 Increased corneal thickness HP:0011488 Abnormality of corneal endothelium HP:0011490 Abnormality of Descemet's membrane HP:0011492 Abnormality of corneal stroma HP:0011496 Corneal neovascularization HP:0011497 Iris neovascularization HP:0011498 Partial aniridia HP:0011499 Mydriasis HP:0011500 Polycoria HP:0011501 Anterior lenticonus HP:0011502 Posterior lenticonus HP:0011504 Bull's eye maculopathy HP:0011505 Cystoid macular edema HP:0011506 Choroidal neovascularization of the macula HP:0011507 Macular flecks HP:0011508 Macular hole HP:0011509 Macular hyperpigmentation HP:0011510 Drusen HP:0011511 Macular schisis HP:0011515 Abnormal stereopsis HP:0011516 Achromatopsia HP:0011520 Deuteranomaly HP:0011521 Deuteranopia HP:0011522 Protanopia HP:0011523 Iris cyst HP:0011524 Iris melanoma HP:0011525 Iris nevus HP:0011527 Lentiglobus HP:0011530 Retinal hole HP:0011531 Vitritis HP:0011532 Subretinal exudate HP:0011536 Right atrial isomerism HP:0011537 Left atrial isomerism HP:0011538 Atrial situs inversus HP:0011540 Congenitally corrected transposition of the great arteries HP:0011552 Ambiguous atrioventricular connection HP:0011553 Discordant atrioventricular connection HP:0011554 Double inlet atrioventricular connection HP:0011555 Double inlet left ventricle HP:0011556 Double inlet right ventricle HP:0011560 Mitral atresia HP:0011562 Straddling atrioventricular valve HP:0011564 Mitral valve arcade HP:0011565 Common atrium HP:0011566 Cor triatriatum dexter HP:0011568 Double orifice mitral valve HP:0011570 Congenital mitral stenosis HP:0011571 Parachute mitral valve HP:0011572 Supramitral ring HP:0011573 Hypoplastic tricuspid valve HP:0011575 Imperforate tricuspid valve HP:0011577 Partial atrioventricular canal defect HP:0011579 Unbalanced atrioventricular canal defect HP:0011580 Short chordae tendineae of the mitral valve HP:0011581 Double outlet left ventricle HP:0011585 Thoracic ectopia cordis HP:0011586 Thoracoabdominal ectopia cordis HP:0011589 Common origin of the right brachiocephalic artery and left common carotid artery HP:0011590 Double aortic arch HP:0011593 Left aortic arch with retroesophageal diverticulum of Kommerell HP:0011596 Left aortic arch with right descending aorta and right ductus arteriosus HP:0011599 Mesocardia HP:0011604 Aortopulmonary window HP:0011607 Transposition of the great arteries with ventricular septal defect HP:0011608 Type II truncus arteriosus HP:0011610 Type IV truncus arteriosus HP:0011611 Interrupted aortic arch HP:0011617 Pulmonary situs ambiguus HP:0011620 Abnormality of abdominal situs HP:0011622 Inlet ventricular septal defect HP:0011623 Muscular ventricular septal defect HP:0011626 Scimitar anomaly HP:0011627 Aorto-ventricular tunnel HP:0011628 Congenital defect of the pericardium HP:0011640 Single coronary artery origin HP:0011641 Coronary artery fistula HP:0011644 Coronary sinus diverticulum HP:0011645 Dilatation of the sinus of Valsalva HP:0011646 Juxtaductal coarctation of the aorta HP:0011650 Bilateral ductus arteriosus HP:0011658 Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis HP:0011659 Tetralogy of Fallot with absent pulmonary valve HP:0011660 Anomalous origin of one pulmonary artery from ascending aorta HP:0011662 Tricuspid atresia HP:0011663 Right ventricular cardiomyopathy HP:0011664 Left ventricular noncompaction cardiomyopathy HP:0011665 Takotsubo cardiomyopathy HP:0011670 Left superior vena cava draining to coronary sinus HP:0011671 Interrupted inferior vena cava with azygous continuation HP:0011672 Cardiac myxoma HP:0011673 Cardiac hemangioma HP:0011674 Cardiac teratoma HP:0011675 Arrhythmia HP:0011677 Tetralogy of Fallot with atrioventricular canal defect HP:0011679 Tetralogy of Fallot with pulmonary stenosis HP:0011681 Subarterial ventricular septal defect HP:0011682 Perimembranous ventricular septal defect HP:0011687 AV nodal tachycardia HP:0011690 Permanent junctional reciprocating tachycardia HP:0011695 Cerebellar hemorrhage HP:0011699 Atrial reentry tachycardia HP:0011700 Automatic atrial tachycardia HP:0011701 Multifocal atrial tachycardia HP:0011703 Sinus tachycardia HP:0011704 Sick sinus syndrome HP:0011705 First degree atrioventricular block HP:0011706 Second degree atrioventricular block HP:0011707 Mobitz I atrioventricular block HP:0011708 Mobitz II atrioventricular block HP:0011709 Atrioventricular dissociation HP:0011710 Bundle branch block HP:0011711 Left anterior fascicular block HP:0011712 Right bundle branch block HP:0011713 Left bundle branch block HP:0011714 Libman-Sacks lesions HP:0011715 Trifascicular block HP:0011716 Junctional ectopic tachycardia HP:0011717 AV nodal reentry tachycardia HP:0011718 Abnormality of the pulmonary veins HP:0011724 Uhl's anomaly HP:0011726 Persistent fetal circulation HP:0011727 Peroneal muscle weakness HP:0011729 Abnormality of joint mobility HP:0011730 Abnormality of central sensory function HP:0011734 Central adrenal insufficiency HP:0011735 Adrenocorticotropin deficient adrenal insufficiency HP:0011736 Primary hyperaldosteronism HP:0011739 Dexamethasone-suppresible primary hyperaldosteronism HP:0011740 Glucocortocoid-insensitive primary hyperaldosteronism HP:0011741 Secondary hyperaldosteronism HP:0011742 Ectopic adrenal gland HP:0011743 Adrenal gland agenesis HP:0011744 Secondary hypercorticolism HP:0011746 Secretory adrenocortical adenoma HP:0011747 Abnormality of the anterior pituitary HP:0011748 Adrenocorticotropic hormone deficiency HP:0011749 Adrenocorticotropic hormone excess HP:0011750 Neoplasm of the anterior pituitary HP:0011754 Pituicytoma HP:0011755 Ectopic posterior pituitary HP:0011757 Posterior pituitary hypoplasia HP:0011759 Pituitary gonadotropic cell adenoma HP:0011760 Pituitary growth hormone cell adenoma HP:0011761 Pituitary null cell adenoma HP:0011762 Pituitary thyrotropic cell adenoma HP:0011763 Pituitary carcinoma HP:0011764 Pituitary spindle cell oncocytoma HP:0011769 Ectopic parathyroid HP:0011770 Tertiary hyperparathyroidism HP:0011771 Autoimmune hypoparathyroidism HP:0011773 Uninodular goiter HP:0011774 Thyroid follicular adenoma HP:0011777 Thyroid papillary adenoma HP:0011779 Anaplastic thyroid carcinoma HP:0011780 Thyroid hemiagenesis HP:0011782 Thyroid crisis HP:0011784 Thyrotoxicosis with diffuse goiter HP:0011785 Thyrotoxicosis with toxic multinodular goitre HP:0011786 Thyrotoxicosis with toxic single thyroid nodule HP:0011787 Central hypothyroidism HP:0011788 Increased serum free triiodothyronine HP:0011790 Activating thyroid-stimulating hormone receptor defect HP:0011792 Neoplasm by histology HP:0011795 Intralobar nephroblastomatosis HP:0011796 Perilobar nephroblastomatosis HP:0011798 Renal oncocytoma HP:0011800 Midface retrusion HP:0011801 Enlargement of parotid gland HP:0011802 Hamartoma of tongue HP:0011803 Bifid nose HP:0011804 Abnormality of muscle physiology HP:0011805 Abnormality of muscle morphology HP:0011807 Type 1 muscle fiber atrophy HP:0011808 Decreased patellar reflex HP:0011809 Paradoxical myotonia HP:0011813 Increased cerebral lipofuscin HP:0011814 Increased urinary hypoxanthine HP:0011815 Cephalocele HP:0011816 Parietal encephalocele HP:0011817 Basal encephalocele HP:0011818 Nasofrontal encephalocele HP:0011819 Submucous cleft soft palate HP:0011820 Membranous choanal atresia HP:0011822 Broad chin HP:0011823 Chin with horizontal crease HP:0011824 Chin with H-shaped crease HP:0011830 Abnormality of oral mucosa HP:0011832 Narrow nasal tip HP:0011833 Overhanging nasal tip HP:0011834 Moyamoya phenomenon HP:0011835 Absent scaphoid HP:0011837 Partial IgA deficiency HP:0011838 Sclerodactyly HP:0011839 Abnormality of T cell count HP:0011840 Abnormality of T cell physiology HP:0011841 Ventricular flutter HP:0011842 Abnormality of skeletal morphology HP:0011843 Abnormality of skeletal physiology HP:0011844 Abnormal appendicular skeleton morphology HP:0011846 Osteoblastoma HP:0011847 Giant cell tumor of bone HP:0011848 Abdominal colic HP:0011849 Abnormal bone ossification HP:0011850 Parotitis HP:0011851 Hemopericardium HP:0011852 Chylopericardium HP:0011853 Serous pericardial effusion HP:0011854 Hemoperitoneum HP:0011855 Pharyngeal edema HP:0011856 Pica HP:0011857 Plasmacytoma HP:0011858 Reduced factor IX activity HP:0011859 Punctate keratitis HP:0011860 Metaphyseal dappling HP:0011863 Abnormal sternal ossification HP:0011864 Elevated plasma pyrophosphate HP:0011867 Abnormality of the wing of the ilium HP:0011868 Sciatica HP:0011869 Abnormal platelet function HP:0011872 Impaired thrombin-induced platelet aggregation HP:0011873 Abnormal platelet count HP:0011874 Heparin-induced thrombocytopenia HP:0011875 Abnormal platelet morphology HP:0011877 Increased mean platelet volume HP:0011880 Acute disseminated intravascular coagulation HP:0011883 Abnormal platelet granules HP:0011884 Abnormal umbilical stump bleeding HP:0011885 Hemorrhage of the eye HP:0011886 Hyphema HP:0011887 Choroid hemorrhage HP:0011889 Bleeding with minor or no trauma HP:0011891 Post-partum hemorrhage HP:0011892 Vitamin K deficiency HP:0011893 Abnormal leukocyte count HP:0011896 Subconjunctival hemorrhage HP:0011897 Neutrophilia HP:0011899 Hyperfibrinogenemia HP:0011900 Hypofibrinogenemia HP:0011901 Dysfibrinogenemia HP:0011902 Abnormal hemoglobin HP:0011903 Hemoglobin H HP:0011904 Persistence of hemoglobin F HP:0011906 Reduced beta/alpha synthesis ratio HP:0011907 Reduced alpha/beta synthesis ratio HP:0011909 Flattened metacarpal heads HP:0011910 Shortening of all phalanges of fingers HP:0011912 Abnormality of the glenoid fossa HP:0011913 Lumbar hypertrichosis HP:0011914 Thoracic hypertrichosis HP:0011915 Cardiovascular calcification HP:0011916 Toe extensor amyotrophy HP:0011917 Short 5th toe HP:0011918 Clinodactyly of the 4th toe HP:0011919 Pleural empyema HP:0011920 Transudative pleural effusion HP:0011921 Exudative pleural effusion HP:0011922 Abnormal activity of mitochondrial respiratory chain HP:0011923 Decreased activity of mitochondrial complex I HP:0011924 Decreased activity of mitochondrial complex III HP:0011925 Decreased activity of mitochondrial ATP synthase complex HP:0011926 Proximal placement of hallux HP:0011929 Hypersegmentation of proximal phalanx of third finger HP:0011930 Hyperextensible skin of chest HP:0011933 Elongated superior cerebellar peduncle HP:0011934 Dilatation of mesenteric artery HP:0011935 Decreased urinary urate HP:0011936 Decreased plasma total carnitine HP:0011937 Hypoplastic fifth toenail HP:0011939 3-4 finger cutaneous syndactyly HP:0011940 Anterior wedging of T12 HP:0011941 Anterior wedging of L2 HP:0011942 Increased urinary sulfite HP:0011943 Increased urinary thiosulfate HP:0011944 Small vessel vasculitis HP:0011945 Bronchiolitis obliterans organizing pneumonia HP:0011946 Bronchiolitis obliterans HP:0011947 Respiratory tract infection HP:0011948 Acute respiratory tract infection HP:0011949 Acute infectious pneumonia HP:0011950 Bronchiolitis HP:0011951 Aspiration pneumonia HP:0011952 Acute aspiration pneumonia HP:0011953 Pulmonary lymphoma HP:0011954 Nodular regenerative hyperplasia of liver HP:0011955 Hepatic granulomatosis HP:0011956 Intestinal lymphoid nodular hyperplasia HP:0011958 Retinal perforation HP:0011959 Unilateral hypoplasia of pectoralis major muscle HP:0011960 Substantia nigra gliosis HP:0011961 Non-obstructive azoospermia HP:0011962 Obstructive azoospermia HP:0011964 Intermittent painful muscle spasms HP:0011966 Elevated plasma citrulline HP:0011967 Hypocupremia HP:0011968 Feeding difficulties HP:0011969 Elevated luteinizing hormone HP:0011970 Cerebral amyloid angiopathy HP:0011971 Dermatographic urticaria HP:0011972 Hypoglycorrhachia HP:0011973 Paroxysmal lethargy HP:0011974 Myelofibrosis HP:0011975 Aminoglycoside-induced hearing loss HP:0011976 Elevated urinary catecholamines HP:0011977 Elevated urinary homovanillic acid HP:0011978 Elevated urinary vanillylmandelic acid HP:0011979 Elevated urinary dopamine HP:0011980 Cholesterol gallstones HP:0011981 Pigment gallstones HP:0011982 Black pigment gallstones HP:0011984 Atretic gallbladder HP:0011985 Acholic stools HP:0011986 Ectopic ossification HP:0011987 Ectopic ossification in muscle tissue HP:0011988 Ectopic ossification in tendon tissue HP:0011989 Ectopic ossification in ligament tissue HP:0011990 Abnormality of neutrophil physiology HP:0011993 Impaired neutrophil bactericidal activity HP:0011995 Atrial septal dilatation HP:0011996 Elevated factor V activity HP:0011998 Postprandial hyperglycemia HP:0011999 Paranoia HP:0012000 EEG with generalized spikes HP:0012001 EEG with generalized polyspikes HP:0012002 Experiential auras HP:0012003 Affective auras HP:0012005 Deja vu HP:0012019 Lens luxation HP:0012020 Right aortic arch HP:0012021 Persistent patent ductus venosus HP:0012022 Congenital portosystemic venous shunt HP:0012023 Galactosuria HP:0012024 Hypergalactosemia HP:0012026 Hyperornithinemia HP:0012027 Laryngeal edema HP:0012028 Hepatocellular adenoma HP:0012030 Increased urinary cortisol level HP:0012031 Lipomatous tumor HP:0012032 Lipoma HP:0012033 Sacral lipoma HP:0012034 Liposarcoma HP:0012035 Steatocystoma multiplex HP:0012036 Sternocleidomastoid amyotrophy HP:0012037 Pectoralis amyotrophy HP:0012038 Corneal guttata HP:0012039 Descemet Membrane Folds HP:0012040 Corneal stromal edema HP:0012041 Decreased fertility in males HP:0012042 Aspirin-induced asthma HP:0012043 Pendular nystagmus HP:0012045 Retinal flecks HP:0012046 Areflexia of upper limbs HP:0012047 Hemeralopia HP:0012048 Oromandibular dystonia HP:0012049 Laryngeal dystonia HP:0012050 Anasarca HP:0012051 Reactive hypoglycemia HP:0012052 Low serum calcitriol HP:0012054 Choroidal melanoma HP:0012055 Ciliary body melanoma HP:0012056 Cutaneous melanoma HP:0012060 Acral lentiginous melanoma HP:0012061 Urinary excretion of sialylated oligosaccharides HP:0012062 Bone cyst HP:0012064 Unicameral bone cyst HP:0012066 Increased urinary disaccharide excretion HP:0012068 Aspartylglucosaminuria HP:0012069 Keratan sulfate excretion in urine HP:0012070 Chondroitin sulfate excretion in urine HP:0012071 Abnormality of acetylcarnitine metabolism HP:0012072 Aciduria HP:0012074 Tonic pupil HP:0012075 Personality disorder HP:0012076 Borderline personality disorder HP:0012077 Histrionic personality disorder HP:0012081 Enlarged cerebellum HP:0012082 Cerebellar Purkinje layer atrophy HP:0012084 Abnormality of skeletal muscle fiber size HP:0012085 Pyuria HP:0012086 Abnormal urinary color HP:0012087 Abnormal mitochondrial shape HP:0012089 Arteritis HP:0012090 Abnormality of pancreas morphology HP:0012092 Abnormality of exocrine pancreas physiology HP:0012093 Abnormality of endocrine pancreas physiology HP:0012095 Multiple joint dislocation HP:0012098 Edema of the dorsum of feet HP:0012101 Decreased serum creatinine HP:0012103 Abnormality of the mitochondrion HP:0012107 Increased fibular diameter HP:0012108 Open angle glaucoma HP:0012109 Angle closure glaucoma HP:0012110 Hypoplasia of the pons HP:0012113 Abnormality of creatine metabolism HP:0012114 Endometrial carcinoma HP:0012115 Hepatitis HP:0012118 Laryngeal carcinoma HP:0012119 Methemoglobinemia HP:0012120 Methylmalonic aciduria HP:0012121 Panuveitis HP:0012122 Anterior uveitis HP:0012123 Posterior uveitis HP:0012124 Intermediate uveitis HP:0012125 Prostate cancer HP:0012126 Stomach cancer HP:0012130 Abnormality of cells of the erythroid lineage HP:0012132 Erythroid hyperplasia HP:0012133 Erythroid hypoplasia HP:0012135 Abnormality of cells of the granulocytic lineage HP:0012140 Abnormality of cells of the lymphoid lineage HP:0012142 Pancreatic squamous cell carcinoma HP:0012143 Abnormality of cells of the megakaryocyte lineage HP:0012145 Abnormality of multiple cell lineages in the bone marrow HP:0012147 Reduced quantity of Von Willebrand factor HP:0012151 Hemothorax HP:0012152 Foveoschisis HP:0012153 Hypotriglyceridemia HP:0012155 Decreased corneal sensation HP:0012156 Hemophagocytosis HP:0012157 Subcortical cerebral atrophy HP:0012158 Carotid artery dissection HP:0012163 Carotid artery dilatation HP:0012165 Oligodactyly HP:0012166 Skin-picking HP:0012167 Hair-pulling HP:0012168 Head-banging HP:0012169 Self-biting HP:0012172 Stereotypical body rocking HP:0012173 Orthostatic tachycardia HP:0012174 Glioblastoma multiforme HP:0012175 Resistance to activated protein C HP:0012176 Abnormality of natural killer cells HP:0012177 Abnormal natural killer cell physiology HP:0012178 Reduced natural killer cell activity HP:0012179 Craniofacial dystonia HP:0012180 Cystic medial necrosis HP:0012181 Entrapment neuropathy HP:0012182 Oropharyngeal squamous cell carcinoma HP:0012183 Hyperplastic colonic polyposis HP:0012184 Hyperalphalipoproteinemia HP:0012185 Constrictive median neuropathy HP:0012187 Increased erythrocyte protoporphyrin concentration HP:0012188 Hyperemesis gravidarum HP:0012189 Hodgkin lymphoma HP:0012190 T-cell lymphoma HP:0012191 B-cell lymphoma HP:0012192 Cutaneous T-cell lymphoma HP:0012194 Episodic hemiplegia HP:0012195 Irregular respiration HP:0012197 Insulinoma HP:0012198 Juvenile colonic polyposis HP:0012199 Cluster headache HP:0012201 Reduced prothrombin activity HP:0012202 Increased serum bile acid concentration HP:0012203 Onychomycosis HP:0012204 Recurrent vulvovaginal candidiasis HP:0012205 Globozoospermia HP:0012207 Reduced sperm motility HP:0012208 Nonmotile sperm HP:0012209 Juvenile myelomonocytic leukemia HP:0012210 Abnormal renal morphology HP:0012211 Abnormal renal physiology HP:0012213 Decreased glomerular filtration rate HP:0012215 Testicular microlithiasis HP:0012216 Entrapment neuropathy of suprascapular nerve HP:0012217 Increased urinary porphobilinogen HP:0012218 Alveolar soft part sarcoma HP:0012219 Erythema nodosum HP:0012220 Non-caseating epithelioid cell granulomatosis HP:0012221 Pretibial blistering HP:0012222 Arachnoid hemangiomatosis HP:0012223 Splenic rupture HP:0012224 Circulating immune complexes HP:0012225 Oligodontia of primary teeth HP:0012226 Ovarian teratoma HP:0012227 Urethral stricture HP:0012229 CSF pleocytosis HP:0012230 Rhegmatogenous retinal detachment HP:0012231 Exudative retinal detachment HP:0012232 Shortened QT interval HP:0012233 Intramuscular hematoma HP:0012235 Drug-induced agranulocytosis HP:0012236 Elevated sweat chloride HP:0012237 Urocanic aciduria HP:0012238 Hyperchylomicronemia HP:0012239 Atransferrinemia HP:0012240 Increased intramyocellular lipid droplets HP:0012241 Levator palpebrae superioris atrophy HP:0012242 Superior rectus atrophy HP:0012243 Abnormal genital system morphology HP:0012244 Abnormal sex determination HP:0012245 Sex reversal HP:0012246 Oculomotor nerve palsy HP:0012247 Specific anosmia HP:0012248 Prolonged PR interval HP:0012251 ST segment elevation HP:0012252 Abnormal respiratory system morphology HP:0012254 Ewing's sarcoma HP:0012256 Absent outer dynein arms HP:0012257 Absent inner dynein arms HP:0012258 Abnormal axonemal organization of respiratory motile cilia HP:0012259 Absent inner and outer dynein arms HP:0012260 Abnormal central microtubular pair morphology of respiratory motile cilia HP:0012262 Abnormal ciliary motility HP:0012263 Immotile cilia HP:0012265 Ciliary dyskinesia HP:0012266 T-wave alternans HP:0012267 Absent respiratory ciliary axoneme radial spokes HP:0012268 Myxoid liposarcoma HP:0012270 Decreased muscle glycogen content HP:0012271 Episodic upper airway obstruction HP:0012272 J wave HP:0012276 Digital flexor tenosynovitis HP:0012277 Hypoglycinemia HP:0012279 Hyposerinemia HP:0012280 Hepatic amyloidosis HP:0012281 Chylous ascites HP:0012282 Morbilliform rash HP:0012283 Small distal femoral epiphysis HP:0012284 Small proximal tibial epiphyses HP:0012286 Abnormal hypothalamus morphology HP:0012287 Hypothalamic luteinizing hormone-releasing hormone deficiency HP:0012288 Neoplasm of head and neck HP:0012290 Mouth neoplasm HP:0012292 Fusion of gums HP:0012294 Abnormality of the occipital bone HP:0012296 Slender distal phalanx of finger HP:0012297 Slender proximal phalanx of finger HP:0012299 Long distal phalanx of finger HP:0012300 Ureteral agenesis HP:0012301 Type II transferrin isoform profile HP:0012302 Herpes simplex encephalitis HP:0012303 Abnormality of the aortic arch HP:0012304 Hypoplastic aortic arch HP:0012305 Coarctation of the descending aortic arch HP:0012307 Spatulate ribs HP:0012308 Decreased serum complement C9 HP:0012309 Cutaneous amyloidosis HP:0012311 Monocytosis HP:0012312 Monocytopenia HP:0012313 Heberden's node HP:0012315 Histiocytoma HP:0012317 Sacroiliac arthritis HP:0012318 Occipital neuralgia HP:0012321 D-2-hydroxyglutaric aciduria HP:0012322 Perifolliculitis HP:0012324 Myeloid leukemia HP:0012325 Chronic myelomonocytic leukemia HP:0012327 Celiac artery compression HP:0012328 Cementoma HP:0012329 Tufted angioma HP:0012330 Pyelonephritis HP:0012334 Extrahepatic cholestasis HP:0012340 Decreased resting energy expenditure HP:0012343 Decreased serum ferritin HP:0012344 Morphea HP:0012345 Abnormal glycosylation HP:0012347 Abnormal protein N-linked glycosylation HP:0012358 Abnormal protein O-linked glycosylation HP:0012364 Decreased urinary potassium HP:0012368 Flat face HP:0012369 Abnormality of malar bones HP:0012371 Hyperplasia of midface HP:0012372 Abnormal eye morphology HP:0012373 Abnormal eye physiology HP:0012375 Chemosis HP:0012377 Hemianopia HP:0012378 Fatigue HP:0012379 Abnormal enzyme/coenzyme activity HP:0012382 Left-to-right shunt HP:0012384 Rhinitis HP:0012385 Camptodactyly HP:0012386 Absent hallux HP:0012387 Bronchitis HP:0012388 Acute bronchitis HP:0012389 Appendicular hypotonia HP:0012390 Anal fissure HP:0012391 Hyporeflexia of upper limbs HP:0012393 Allergy HP:0012396 Biliary dyskinesia HP:0012397 Aortic atherosclerosis HP:0012398 Peripheral edema HP:0012399 Pressure ulcer HP:0012401 Abnormal urine alpha-ketoglutarate concentration HP:0012405 Hypocitraturia HP:0012407 Scissor gait HP:0012408 Medullary nephrocalcinosis HP:0012410 Pure red cell aplasia HP:0012411 Premature pubarche HP:0012412 Premature adrenarche HP:0012416 Hypercapnia HP:0012418 Hypoxemia HP:0012424 Chorioretinitis HP:0012426 Optic disc drusen HP:0012428 Prominent calcaneus HP:0012430 Cerebral white matter hypoplasia HP:0012432 Chronic fatigue HP:0012434 Delayed social development HP:0012440 Abnormal biliary tract morphology HP:0012441 Sphincter of Oddi dyskinesia HP:0012443 Abnormality of brain morphology HP:0012444 Brain atrophy HP:0012447 Abnormal myelination HP:0012448 Delayed myelination HP:0012450 Chronic constipation HP:0012451 Acute constipation HP:0012452 Restless legs HP:0012455 Large artery calcification HP:0012461 Bacteriuria HP:0012462 Chin myoclonus HP:0012463 Elevated transferrin saturation HP:0012464 Decreased transferrin saturation HP:0012465 Elevated hepatic iron concentration HP:0012468 Chronic acidosis HP:0012469 Infantile spasms HP:0012471 Thick vermilion border HP:0012472 Eclabion HP:0012473 Tongue atrophy HP:0012474 Carotid artery occlusion HP:0012478 Temporomandibular joint ankylosis HP:0012480 Abnormality of cerebral veins HP:0012486 Myelitis HP:0012490 Panniculitis HP:0012492 Cerebral artery stenosis HP:0012499 Descending aortic dissection HP:0012500 Verrucous papule HP:0012503 Abnormality of the pituitary gland HP:0012504 Abnormal size of pituitary gland HP:0012505 Enlarged pituitary gland HP:0012506 Small pituitary gland HP:0012507 Weakness of orbicularis oculi muscle HP:0012508 Metamorphopsia HP:0012510 Extra-axial cerebrospinal fluid accumulation HP:0012514 Lower limb pain HP:0012515 Hip flexor weakness HP:0012517 Reduced catalase activity HP:0012520 Perivascular spaces HP:0012521 Optic nerve aplasia HP:0012522 Spider hemangioma HP:0012531 Pain HP:0012532 Chronic pain HP:0012533 Allodynia HP:0012534 Dysesthesia HP:0012535 Abnormal synaptic transmission HP:0012537 Food intolerance HP:0012539 Non-Hodgkin lymphoma HP:0012542 Onychauxis HP:0012543 Hemosiderinuria HP:0012544 Elevated aldolase level HP:0012548 Fatty replacement of skeletal muscle HP:0012549 Conjunctival lipoma HP:0012550 Colonic varices HP:0012551 Absent neutrophil specific granules HP:0012553 Hypoplastic thumbnail HP:0012555 Absent nail of hallux HP:0012556 Hyperbetaalaninemia HP:0012557 EEG with centrotemporal focal spike waves HP:0012559 Increased T3/T4 ratio HP:0012569 Delayed menarche HP:0012570 Synovial sarcoma HP:0012574 Mesangial hypercellularity HP:0012577 Thin glomerular basement membrane HP:0012578 Membranous nephropathy HP:0012579 Minimal change glomerulonephritis HP:0012583 Unilateral renal hypoplasia HP:0012584 Bilateral renal hypoplasia HP:0012587 Macroscopic hematuria HP:0012588 Steroid-resistant nephrotic syndrome HP:0012590 Abnormal urine output HP:0012592 Albuminuria HP:0012594 Microalbuminuria HP:0012595 Mild proteinuria HP:0012598 Abnormal urine potassium concentration HP:0012605 Hypernatriuria HP:0012606 Renal sodium wasting HP:0012608 Hypermagnesiuria HP:0012609 Hypomagnesiuria HP:0012611 Increased urinary urate HP:0012620 Cloacal abnormality HP:0012621 Persistent cloaca HP:0012622 Chronic kidney disease HP:0012625 Stage 3 chronic kidney disease HP:0012629 Phacodonesis HP:0012631 Pigment deposition in the trabecular meshwork HP:0012633 Asymmetry of intraocular pressure HP:0012634 Iris pigment dispersion HP:0012636 Retinal vein occlusion HP:0012637 Renal calcium wasting HP:0012638 Abnormality of nervous system physiology HP:0012639 Abnormality of nervous system morphology HP:0012641 Decreased intracranial pressure HP:0012642 Cerebellar agenesis HP:0012645 Enlarged peripheral nerve HP:0012646 Retractile testis HP:0012649 Increased inflammatory response HP:0012650 Perisylvian polymicrogyria HP:0012651 Abasia HP:0012652 Exercise-induced asthma HP:0012653 Status asthmaticus HP:0012658 Abnormal brain FDG positron emission tomography HP:0012664 Reduced ejection fraction HP:0012671 Abulia HP:0012672 Akinetic mutism HP:0012675 Iron accumulation in brain HP:0012680 Abnormality of the pineal gland HP:0012687 Agenesis of pineal gland HP:0012697 Small basal ganglia HP:0012700 Abnormal large intestine physiology HP:0012702 Tenesmus HP:0012704 Widened subarachnoid space HP:0012705 Abnormal metabolic brain imaging by MRS HP:0012708 Reduced brain N-acetyl aspartate level by MRS HP:0012712 Mild hearing impairment HP:0012714 Severe hearing impairment HP:0012715 Profound hearing impairment HP:0012717 Severe conductive hearing impairment HP:0012718 Morphological abnormality of the gastrointestinal tract HP:0012719 Functional abnormality of the gastrointestinal tract HP:0012720 Neoplasm of the nose HP:0012721 Venous malformation HP:0012722 Heart block HP:0012723 Sinoatrial block HP:0012724 Upper eyelid edema HP:0012725 Cutaneous syndactyly HP:0012726 Episodic hypokalemia HP:0012727 Dilatation of the thoracic aorta HP:0012730 Aglossia HP:0012731 Ectopic anterior pituitary gland HP:0012732 Anorectal anomaly HP:0012733 Macule HP:0012734 Ketotic hypoglycemia HP:0012735 Cough HP:0012736 Profound global developmental delay HP:0012740 Papilloma HP:0012741 Unilateral cryptorchidism HP:0012742 Thin fingernail HP:0012743 Abdominal obesity HP:0012745 Short palpebral fissure HP:0012746 Thin toenail HP:0012747 Abnormal brainstem MRI signal intensity HP:0012751 Abnormal basal ganglia MRI signal intensity HP:0012757 Abnormal neuron morphology HP:0012759 Neurodevelopmental abnormality HP:0012762 Cerebral white matter atrophy HP:0012763 Paroxysmal dyspnea HP:0012767 Abnormal placental size HP:0012768 Neonatal asphyxia HP:0012771 Increased arm span HP:0012774 Increased upper to lower segment ratio HP:0012784 Perinephritis HP:0012786 Recurrent cystitis HP:0012787 Recurrent pyelonephritis HP:0012788 Reticulate pigmentation of oral mucosa HP:0012789 Hypoplasia of the calcaneus HP:0012792 Absent ossification of thoracic vertebral bodies HP:0012795 Abnormality of the optic disc HP:0012796 Increased cup-to-disc ratio HP:0012798 Pulmonary lymphangiomyomatosis HP:0012802 Broad jaw HP:0012803 Anisometropia HP:0012804 Corneal ulceration HP:0012805 Iris transillumination defect HP:0012806 Proboscis HP:0012810 Wide nasal base HP:0012811 Wide nasal ridge HP:0012813 Unilateral breast hypoplasia HP:0012814 Bilateral breast hypoplasia HP:0012815 Hypoplastic female external genitalia HP:0012817 Noncompaction cardiomyopathy HP:0012819 Myocarditis HP:0012841 Retinal vascular tortuosity HP:0012843 Hair follicle neoplasm HP:0012844 Trichilemmoma HP:0012846 Multiple trichilemmomata HP:0012847 Epilepsia partialis continua HP:0012854 Midshaft hypospadias HP:0012856 Abnormal scrotal rugation HP:0012858 Decreased scrotal rugation HP:0012859 Esophageal leukoplakia HP:0012861 Ovotestis HP:0012862 Abnormal germ cell morphology HP:0012864 Abnormal sperm morphology HP:0012868 Sperm tail anomaly HP:0012870 Vanishing testis HP:0012871 Varicocele HP:0012872 Abnormal vas deferens morphology HP:0012873 Absent vas deferens HP:0012876 Premature ejaculation HP:0012877 Retrograde ejaculation HP:0012881 Abnormality of the labia majora HP:0012886 Hemorrhagic ovarian cyst HP:0012887 Ovarian serous cystadenoma HP:0012889 Cervical endometriosis HP:0012890 Posteriorly placed anus HP:0012894 Paraspinal muscle hypertrophy HP:0012899 Handgrip myotonia HP:0012905 Euryblepharon HP:0020006 Ciliary body coloboma HP:0025014 Subcutaneous spheroids HP:0025019 Arterial rupture HP:0025027 Osteoma cutis HP:0025066 Decreased mean corpuscular volume HP:0025147 Beaten bronze macular sheen HP:0025157 Increased urinary sedoheptulose HP:0025247 Dermoid cyst HP:0025321 Copper accumulation in liver HP:0025343 Lupus anticoagulant HP:0025358 Uveal ectropion HP:0030003 Paralytic lagophthalmos HP:0030004 Cicatricial lagophthalmos HP:0030005 Capillary leak HP:0030006 Single fiber EMG abnormality HP:0030007 EMG: positive sharp waves HP:0030010 Hydrometrocolpos HP:0030011 Imperforate hymen HP:0030014 Female sexual dysfunction HP:0030015 Female anorgasmia HP:0030016 Dyspareunia HP:0030018 Decreased female libido HP:0030019 Increased female libido HP:0030022 Question mark ear HP:0030031 Small toe HP:0030032 Partial absence of foot HP:0030034 Diffuse glomerular basement membrane lamellation HP:0030037 Bifid ureter HP:0030041 Schmorl's node HP:0030042 Incomplete ossification of pubis HP:0030043 Hip subluxation HP:0030046 Hypoglycosylation of alpha-dystroglycan HP:0030047 Abnormality of lateral ventricle HP:0030048 Colpocephaly HP:0030049 Brain abscess HP:0030050 Narcolepsy HP:0030051 Tip-toe gait HP:0030052 Inguinal freckling HP:0030053 Stiff skin HP:0030054 Perifollicular fibrosis HP:0030055 Hyperconvex toenail HP:0030056 Uncombable hair HP:0030057 Autoimmune antibody positivity HP:0030062 Craniopharyngioma HP:0030066 Ependymoblastoma HP:0030068 Olfactory esthesioneuroblastoma HP:0030069 Primary central nervous system lymphoma HP:0030071 Medulloepithelioma HP:0030072 Paranasal sinus neoplasm HP:0030074 Chemodectoma HP:0030075 Ductal carcinoma in situ HP:0030076 Lobular carcinoma in situ HP:0030077 Bronchial neoplasm HP:0030078 Lung adenocarcinoma HP:0030079 Cervix cancer HP:0030080 Burkitt lymphoma HP:0030083 Salt craving HP:0030084 Clinodactyly HP:0030087 Abnormal serum testosterone level HP:0030088 Increased serum testosterone level HP:0030126 Abnormality of the endometrium HP:0030127 Endometriosis HP:0030142 Abnormal bowel sounds HP:0030144 Hypoactive bowel sounds HP:0030145 Lack of bowel sounds HP:0030146 Abnormal liver parenchyma morphology HP:0030147 Truncal titubation HP:0030148 Heart murmur HP:0030149 Cardiogenic shock HP:0030150 Plasmacytosis HP:0030151 Cholangitis HP:0030153 Cholangiocarcinoma HP:0030156 Bence Jones Proteinuria HP:0030157 Flank pain HP:0030159 Cervical polyp HP:0030160 Cervicitis HP:0030164 Jaw claudication HP:0030166 Night sweats HP:0030177 Abnormality of peripheral nervous system electrophysiology HP:0030183 Impaired visually enhanced vestibulo-ocular reflex HP:0030186 Kinetic tremor HP:0030190 Oral motor hypotonia HP:0030195 Fatigable weakness of swallowing muscles HP:0030196 Fatigable weakness of respiratory muscles HP:0030200 Fatiguable weakness of proximal limb muscles HP:0030205 Increased jitter at single fibre EMG HP:0030208 Acetylcholine receptor antibody positivity HP:0030210 Muscle specific kinase antibody positivity HP:0030211 Slow pupillary light response HP:0030212 Collectionism HP:0030213 Emotional blunting HP:0030214 Hypersexuality HP:0030215 Inappropriate crying HP:0030216 Inertia HP:0030222 Visual agnosia HP:0030223 Perseveration HP:0030230 Central core regions in muscle fibers HP:0030234 Highly elevated creatine phosphokinase HP:0030237 Hand muscle weakness HP:0030241 Hypoplasia of deltoid muscle HP:0030242 Portal vein thrombosis HP:0030243 Hepatic vein thrombosis HP:0030247 Splanchnic vein thrombosis HP:0030249 Enanthema HP:0030253 Defective T cell proliferation HP:0030258 Hyperpigmented genitalia HP:0030260 Microphallus HP:0030261 Absent penis HP:0030268 Hyperplastic callus formation HP:0030269 Increased serum insulin-like growth factor 1 HP:0030270 Elevated red cell adenosine deaminase activity HP:0030271 Reduced erythrocyte 2,3-diphosphoglycerate concentration HP:0030273 Reduced red cell adenosine deaminase activity HP:0030275 Ectopic scrotum HP:0030276 Small scrotum HP:0030284 Triangular tongue HP:0030290 Unossified sacrum HP:0030292 Tibial metaphyseal irregularity HP:0030313 Abnormal periosteum morphology HP:0030314 Periostosis HP:0030318 Angular cheilitis HP:0030319 Weakness of facial musculature HP:0030320 Increased intervertebral space HP:0030323 Unilateral vertebral artery hypoplasia HP:0030325 Cervicomedullary schisis HP:0030328 Decreased osteoclast count HP:0030329 Retinal thinning HP:0030330 Multinucleated giant chondrocytes in epiphyseal cartilage HP:0030341 Decreased circulating follicle stimulating hormone level HP:0030344 Decreased circulating luteinizing hormone level HP:0030348 Increased circulating androgen level HP:0030349 Decreased circulating androgen level HP:0030353 Decreased serum insulin-like growth factor 1 HP:0030355 Abnormal serum interferon-gamma level HP:0030357 Small cell lung carcinoma HP:0030358 Non-small cell lung carcinoma HP:0030360 Large cell lung carcinoma HP:0030362 Reduced muscle carnitine level HP:0030368 Hyperphalangy of the 2nd finger HP:0030369 Induced vaginal delivery HP:0030391 Spoken Word Recognition Deficit HP:0030392 Choroid plexus carcinoma HP:0030394 Fallopian tube carcinoma HP:0030403 Spontaneous platelet aggregation HP:0030404 Glucagonoma HP:0030406 Primary peritoneal carcinoma HP:0030408 Pineoblastoma HP:0030410 Sebaceous gland carcinoma HP:0030411 Jejunal adenocarcinoma HP:0030416 Vulvar neoplasm HP:0030418 Vulvar melanoma HP:0030419 Bartholin gland carcinoma HP:0030421 Epididymal neoplasm HP:0030424 Epididymal cyst HP:0030426 Ossifying fibroma HP:0030430 Neuroma HP:0030431 Osteochondroma HP:0030432 Chondroblastoma HP:0030433 Osteoid osteoma HP:0030434 Pilomatrixoma HP:0030436 Fibrofolliculoma HP:0030438 Anal canal squamous cell carcinoma HP:0030439 Anal canal adenocarcinoma HP:0030442 Anal margin squamous cell carcinoma HP:0030443 Anal margin basal cell carcinoma HP:0030445 Pulmonary carcinoid tumor HP:0030448 Soft tissue sarcoma HP:0030451 Mesenteric cyst HP:0030454 Abnormal electrooculogram HP:0030455 Abnormality of pattern visual evoked potentials HP:0030490 Exudative vitreoretinopathy HP:0030491 Choriocapillaris atrophy HP:0030500 Yellow/white lesions of the macula HP:0030502 Retinoschisis HP:0030503 Macular telangiectasia HP:0030507 Retinal crystals HP:0030511 Bradyopsia HP:0030513 Difficulty adjusting from light to dark HP:0030515 Moderate visual impairment HP:0030521 Bitemporal hemianopia HP:0030528 Paracentral scotoma HP:0030529 Ring scotoma HP:0030530 Arcuate scotoma HP:0030532 Visual acuity test abnormality HP:0030588 Abnormal visual field test HP:0030591 Abnormal kinetic perimetry test HP:0030595 Abnormal static automated perimetry test HP:0030609 Photoreceptor layer loss on macular OCT HP:0030612 Abnormal retinal morphology on macular OCT HP:0030613 Abnormal foveal morphology on macular OCT HP:0030629 Perifoveal ring of hyperautofluorescence HP:0030636 Occult macular dystrophy HP:0030642 Fundus albipunctatus HP:0030644 Blind-spot enlargment HP:0030663 Optically empty vitreous HP:0030664 Beevor's sign HP:0030666 Retinal neovascularization HP:0030667 Peripheral retinal neovascularization HP:0030672 Asteroid hyalosis HP:0030676 Satyr ear HP:0030680 Abnormality of cardiovascular system morphology HP:0030682 Left ventricular noncompaction HP:0030683 Vaginitis HP:0030685 Decreased adiponectin level HP:0030688 Increased glucagon level HP:0030736 Sacrococcygeal teratoma HP:0030757 Tooth abscess HP:0030765 Sleep terror HP:0030769 Exencephaly HP:0030781 Increased circulating free fatty acid level HP:0030786 Photopsia HP:0030791 Abnormal jaw morphology HP:0030794 Abnormal C-peptide level HP:0030799 Scaphocephaly HP:0030800 Abnormal visual accommodation HP:0030809 Abnormal tongue morphology HP:0030812 Enlarged tonsils HP:0030814 Orange discoloured tonsils HP:0030820 Hooded eyelid HP:0030824 Mizuo phenomenon HP:0030828 Wheezing HP:0030830 Rales HP:0030834 Shoulder pain HP:0030839 Knee pain HP:0030853 Heterotaxy HP:0030865 Large elbow HP:0030872 Abnormal cardiac ventricular function HP:0030880 Raynaud phenomenon HP:0030882 Coronary artery aneurysm HP:0030890 Hyperintensity of cerebral white matter on MRI HP:0030895 Abnormal gastrointestinal motility HP:0030907 Thunderclap headache HP:0031020 Bone marrow hypercellularity HP:0040009 Hyperparakeratosis HP:0040012 Chromosome breakage HP:0040016 Prominent coccyx HP:0040019 Finger clinodactyly HP:0040025 Clinodactyly of the 4th finger HP:0040047 Abnormality of the right hemidiaphragm HP:0040049 Macular edema HP:0040075 Hypopituitarism HP:0040079 Irregular dentition HP:0040080 Anteverted ears HP:0040081 Abnormal levels of creatine kinase in blood HP:0040082 Happy demeanor HP:0040083 Toe walking HP:0040084 Abnormal circulating renin HP:0040085 Abnormal circulating aldosterone HP:0040086 Abnormal prolactin level HP:0040090 Abnormality of the tympanic membrane HP:0040097 Neoplasm of the ceruminal gland HP:0040113 Old-aged sensorineural hearing impairment HP:0040119 Unilateral conductive hearing impairment HP:0040137 Comedonal acne HP:0040138 Mucinous histiocytosis HP:0040139 Lipogranulomatosis HP:0040140 Degeneration of the striatum HP:0040141 Tardive dyskinesia HP:0040142 5-oxoprolinase deficiency HP:0040143 Dystopic os odontoideum HP:0040144 L-2-hydroxyglutaric aciduria HP:0040147 L-2-hydroxyglutaric acidemia HP:0040148 Cortical myoclonus HP:0040149 Woolly scalp hair HP:0040154 Acne inversa HP:0040160 Generalized osteoporosis HP:0040162 Orthokeratosis HP:0040164 Lipomas of upper eyelids HP:0040165 Periostitis HP:0040166 Abnormality of the periosteum HP:0040168 Focal seizures, afebril HP:0040169 Loose anagen hair HP:0040170 Abnormality of hair growth HP:0040171 Decreased serum testosterone level HP:0040175 Platelet-activating factor acetylhydrolase deficiency HP:0040178 Increased level of platelet-activating factor HP:0040180 Hyperkeratosis pilaris HP:0040181 Chapped lip HP:0040183 Encopresis HP:0040184 Oral bleeding HP:0040185 Macrothrombocytopenia HP:0040186 Maculopapular exanthema HP:0040187 Neonatal sepsis HP:0040188 Osteochondrosis HP:0040189 Scaling skin HP:0040190 White scaling skin HP:0040194 Increased head circumference HP:0040196 Mild microcephaly HP:0040197 Encephalomalacia HP:0040198 Non-medullary thyroid carcinoma HP:0040211 Abnormality of the skin of the palm HP:0040215 Abnormal circulating insulin level HP:0040216 Hypoinsulinemia HP:0040217 Elevated hemoglobin A1c HP:0040218 Reduced natural killer cell number HP:0040221 Hypoplasia of the dental root HP:0040223 Pulmonary hemorrhage HP:0040229 Decreased level of thrombomodulin HP:0040262 Glue ear HP:0040264 Jaw pain HP:0040268 Recurrent infections of the middle ear HP:0040288 Nasogastric tube feeding HP:0040303 Decreased serum iron HP:0045016 Elevated serum long-chain fatty acids HP:0045018 Partial duplication of eyebrows HP:0045025 Narrow palpebral fissure HP:0045026 Abnormality of the mediastinum HP:0045028 Type III lissencephaly HP:0045029 Eosinophilic fasciitis HP:0045037 Abnormality of jaw muscles HP:0045038 Gastric lymphoma HP:0045039 Osteolysis involving bones of the upper limbs HP:0045040 Abnormal lactate dehydrogenase activity HP:0045041 Reduced lactate dehydrogenase B level HP:0045044 Decreased serum complement C4b HP:0045045 Elevated plasma acylcarnitine levels HP:0045046 Reduced insulin like growth factor binding protein acid labile subunit level HP:0045054 Brachial plexus neuropathy HP:0045055 Tiger tail banding HP:0045057 Decreased levels of alpha-fetoprotein HP:0045059 Hyperkeratotic papule HP:0045061 Decreased carnitine level in liver HP:0045075 Sparse eyebrow HP:0045080 Decreased number of CD3+ T cells HP:0100000 Early onset of sexual maturation HP:0100001 Malignant mesothelioma HP:0100002 Pleural mesothelioma HP:0100003 Peritoneal mesothelioma HP:0100004 Pericardial mesothelioma HP:0100005 Testicular mesothelioma HP:0100006 Neoplasm of the central nervous system HP:0100007 Neoplasm of the peripheral nervous system HP:0100008 Schwannoma HP:0100009 Intracranial meningioma HP:0100010 Spinal meningioma HP:0100011 Scleral schwannoma HP:0100012 Neoplasm of the eye HP:0100013 Neoplasm of the breast HP:0100014 Epiretinal membrane HP:0100015 Stahl ear HP:0100016 Abnormality of mesentery morphology HP:0100017 Capsular cataract HP:0100018 Nuclear cataract HP:0100019 Cortical cataract HP:0100021 Cerebral palsy HP:0100022 Abnormality of movement HP:0100023 Recurrent hand flapping HP:0100024 Conspicuously happy disposition HP:0100025 Overfriendliness HP:0100026 Arteriovenous malformation HP:0100027 Recurrent pancreatitis HP:0100028 Ectopic thyroid HP:0100029 Lingual thyroid HP:0100030 Accessory ectopic thyroid tissue HP:0100031 Neoplasm of the thyroid gland HP:0100033 Tics HP:0100034 Motor tics HP:0100035 Phonic tics HP:0100036 Pseudo-fractures HP:0100037 Abnormality of the scalp hair HP:0100038 Slow-growing scalp hair HP:0100039 Thickened cortex of bones HP:0100168 Fragmented epiphyses HP:0100235 Synostosis involving bones of the toes HP:0100240 Synostosis of joints HP:0100242 Sarcoma HP:0100243 Leiomyosarcoma HP:0100244 Fibrosarcoma HP:0100245 Desmoid tumors HP:0100246 Osteoma HP:0100247 Recurrent singultus HP:0100248 Hemiballismus HP:0100249 Calcification of muscles HP:0100250 Meningeal calcification HP:0100251 Lipomas of the central neryous system HP:0100252 Diaphyseal dysplasia HP:0100253 Abnormality of the medullary cavity of the long bones HP:0100254 Stenosis of the medullary cavity of the long bones HP:0100255 Metaphyseal dysplasia HP:0100256 Senile plaques HP:0100257 Ectrodactyly HP:0100258 Preaxial polydactyly HP:0100259 Postaxial polydactyly HP:0100260 Mesoaxial polydactyly HP:0100261 Abnormal tendon morphology HP:0100263 Distal symphalangism HP:0100264 Proximal symphalangism HP:0100266 Synostosis of carpals/tarsals HP:0100267 Lip pit HP:0100268 Upper lip pit HP:0100272 Branchial sinus HP:0100273 Neoplasm of the colon HP:0100274 Gustatory lacrimation HP:0100275 Diffuse cerebellar atrophy HP:0100276 Skin pit HP:0100277 Periauricular skin pits HP:0100279 Ulcerative colitis HP:0100280 Crohn's disease HP:0100281 Chronic colitis HP:0100284 EMG: myotonic discharges HP:0100285 EMG: impaired neuromuscular transmission HP:0100288 EMG: myokymic discharges HP:0100291 Abnormality of central somatosensory evoked potentials HP:0100292 Amyloidosis of peripheral nerves HP:0100293 Muscle fiber hypertrophy HP:0100295 Muscle fiber atrophy HP:0100296 Perifascicular muscle fiber atrophy HP:0100299 Muscle fiber inclusion bodies HP:0100300 Desmin bodies HP:0100303 Muscle fiber cytoplasmatic inclusion bodies HP:0100305 Ring fibers HP:0100307 Cerebellar hemisphere hypoplasia HP:0100309 Subdural hemorrhage HP:0100310 Epidural hemorrhage HP:0100312 Cerebral germinoma HP:0100315 Lewy bodies HP:0100316 Hirano bodies HP:0100318 Lafora bodies HP:0100320 Rosenthal fibres HP:0100321 Abnormality of the dentate nucleus HP:0100324 Scleroderma HP:0100326 Immunologic hypersensitivity HP:0100327 Cow milk allergy HP:0100333 Unilateral cleft lip HP:0100334 Unilateral cleft palate HP:0100335 Non-midline cleft lip HP:0100336 Bilateral cleft lip HP:0100337 Bilateral cleft palate HP:0100362 Aplasia of the phalanges of the 3rd toe HP:0100371 Aplasia/Hypoplasia of the distal phalanx of the 5th toe HP:0100376 Aplasia/hypoplasia of the proximal phalanx of the 4th toe HP:0100387 Aplasia of the middle phalanges of the toes HP:0100444 Curved middle phalanx of the 4th toe HP:0100453 Osteolytic defects of the middle phalanx of the 4th toe HP:0100491 Abnormality of lower limb joint HP:0100492 Joint contractures involving the joints of the feet HP:0100493 Hypoammonemia HP:0100495 Mastocytosis HP:0100498 Deviation of toes HP:0100499 Tibial deviation of toes HP:0100500 Fibular deviation of toes HP:0100501 Recurrent bronchiolitis HP:0100502 Vitamin B12 deficiency HP:0100503 Vitamin B1 deficiency HP:0100504 Vitamin B2 deficiency HP:0100507 Folate deficiency HP:0100508 Abnormality of vitamin metabolism HP:0100510 Vitamin C deficiency HP:0100511 Abnormality of vitamin D metabolism HP:0100512 Vitamin D deficiency HP:0100513 Vitamin E deficiency HP:0100514 Abnormality of vitamin E metabolism HP:0100515 Pollakisuria HP:0100516 Neoplasm of the ureter HP:0100517 Neoplasm of the urethra HP:0100518 Dysuria HP:0100519 Anuria HP:0100521 Neoplasm of the thymus HP:0100522 Thymoma HP:0100523 Liver abscess HP:0100524 Limb duplication HP:0100526 Neoplasm of the lung HP:0100527 Neoplasia of the pleura HP:0100528 Pleuropulmonary blastoma HP:0100529 Abnormality of phosphate homeostasis HP:0100530 Abnormality of calcium-phosphate metabolism HP:0100532 Scleritis HP:0100533 Inflammatory abnormality of the eye HP:0100534 Episcleritis HP:0100535 Tibiofibular diastasis HP:0100536 Abnormality of the fascia HP:0100537 Fasciitis HP:0100539 Periorbital edema HP:0100540 Palpebral edema HP:0100541 Femoral hernia HP:0100542 Abnormal localization of kidney HP:0100543 Cognitive impairment HP:0100544 Neoplasm of the heart HP:0100545 Arterial stenosis HP:0100546 Carotid artery stenosis HP:0100547 Abnormality of forebrain morphology HP:0100548 Exstrophy HP:0100550 Tendon rupture HP:0100551 Neoplasm of the trachea HP:0100553 Hemihypertrophy of lower limb HP:0100554 Hemihypertrophy of upper limb HP:0100555 Asymmetric growth HP:0100556 Hemiatrophy HP:0100557 Hemiatrophy of lower limb HP:0100558 Hemiatrophy of upper limb HP:0100559 Lower limb asymmetry HP:0100560 Upper limb asymmetry HP:0100561 Spinal cord lesion HP:0100562 Diplomyelia HP:0100563 Diastomatomyelia HP:0100565 Hydromyelia HP:0100568 Neoplasm of the endocrine system HP:0100569 Abnormal vertebral ossification HP:0100570 Carcinoid tumor HP:0100571 Cardiac diverticulum HP:0100574 Biliary tract neoplasm HP:0100575 Neoplasm of the gallbladder HP:0100576 Amaurosis fugax HP:0100577 Urinary bladder inflammation HP:0100578 Lipoatrophy HP:0100579 Mucosal telangiectasiae HP:0100580 Barrett esophagus HP:0100581 Dilatation of renal calices HP:0100582 Nasal polyposis HP:0100583 Corneal perforation HP:0100584 Endocarditis HP:0100585 Telangiectasia of the skin HP:0100586 Aseptic leukocyturia HP:0100587 Abnormality of the preputium HP:0100588 Paraphimosis HP:0100589 Urogenital fistula HP:0100590 Rectal fistula HP:0100592 Peritoneal abscess HP:0100593 Calcification of cartilage HP:0100594 Esophageal web HP:0100595 Camptocormia HP:0100596 Absent nares HP:0100598 Pulmonary edema HP:0100599 Bifid penis HP:0100600 Penoscrotal transposition HP:0100601 Eclampsia HP:0100602 Preeclampsia HP:0100603 Toxemia of pregnancy HP:0100604 Neoplasm of the lip HP:0100605 Neoplasm of the larynx HP:0100607 Dysmenorrhea HP:0100608 Metrorrhagia HP:0100610 Maternal hyperphenylalaninemia HP:0100611 Multiple glomerular cysts HP:0100612 Odontogenic neoplasm HP:0100613 Death in early adulthood HP:0100614 Myositis HP:0100615 Ovarian neoplasm HP:0100616 Testicular teratoma HP:0100617 Testicular seminoma HP:0100618 Leydig cell neoplasia HP:0100619 Sertoli cell neoplasm HP:0100620 Germinoma HP:0100621 Dysgerminoma HP:0100622 Maternal seizures HP:0100625 Enlarged thorax HP:0100626 Chronic hepatic failure HP:0100627 Displacement of the external urethral meatus HP:0100628 Esophageal diverticulum HP:0100629 Midline facial cleft HP:0100630 Neoplasia of the nasopharynx HP:0100631 Neoplasm of the adrenal gland HP:0100632 Pulmonary sequestration HP:0100633 Esophagitis HP:0100634 Neuroendocrine neoplasm HP:0100635 Carotid paraganglioma HP:0100639 Erectile abnormalities HP:0100640 Laryngeal cyst HP:0100641 Neoplasm of the adrenal cortex HP:0100642 Neoplasm of the adrenal medulla HP:0100643 Abnormality of nail color HP:0100644 Melanonychia HP:0100645 Cystocele HP:0100647 Graves disease HP:0100648 Neoplasm of the tongue HP:0100649 Neoplasm of the oral cavity HP:0100650 Vaginal neoplasm HP:0100651 Type I diabetes mellitus HP:0100653 Optic neuritis HP:0100654 Retrobulbar optic neuritis HP:0100656 Thoracoabdominal wall defect HP:0100657 Thoracoabdominal eventration HP:0100658 Cellulitis HP:0100659 Abnormality of the cerebral vasculature HP:0100660 Dyskinesia HP:0100661 Trigeminal neuralgia HP:0100662 Chondritis HP:0100663 Synotia HP:0100665 Angioedema HP:0100668 Intestinal duplication HP:0100669 Abnormal pigmentation of the oral mucosa HP:0100670 Rough bone trabeculation HP:0100671 Abnormal trabecular bone morphology HP:0100672 Vaginal hernia HP:0100673 Vaginal hydrocele HP:0100676 Vaginal lymphocele HP:0100678 Premature skin wrinkling HP:0100679 Lack of skin elasticity HP:0100681 Esophageal duplication HP:0100682 Tracheal atresia HP:0100684 Salivary gland neoplasm HP:0100686 Enthesitis HP:0100689 Decreased corneal thickness HP:0100692 Increased corneal curvature HP:0100693 Iridodonesis HP:0100694 Tibial torsion HP:0100695 Lipedema HP:0100697 Neurofibrosarcoma HP:0100698 Subcutaneous neurofibromas HP:0100699 Scarring HP:0100702 Arachnoid cyst HP:0100703 Tongue thrusting HP:0100704 Cortical visual impairment HP:0100707 Abnormality of the astrocytes HP:0100709 Reduction of oligodendroglia HP:0100710 Impulsivity HP:0100711 Abnormality of the thoracic spine HP:0100712 Abnormality of the lumbar spine HP:0100716 Self-injurious behavior HP:0100717 Abnormality of the cementum HP:0100718 Uterine rupture HP:0100719 Lens coloboma HP:0100720 Hypoplasia of the ear cartilage HP:0100721 Mediastinal lymphadenopathy HP:0100723 Gastrointestinal stroma tumor HP:0100724 Hypercoagulability HP:0100725 Lichenification HP:0100726 Kaposi's sarcoma HP:0100727 Histiocytosis HP:0100728 Germ cell neoplasia HP:0100729 Large face HP:0100730 Bronchogenic cyst HP:0100731 Transverse facial cleft HP:0100732 Pancreatic fibrosis HP:0100734 Abnormality of vertebral epiphysis morphology HP:0100735 Hypertensive crisis HP:0100736 Abnormality of the soft palate HP:0100738 Abnormal eating behavior HP:0100739 Bulimia HP:0100742 Vascular neoplasm HP:0100743 Neoplasm of the rectum HP:0100745 Abnormality of the humeroulnar joint HP:0100746 Macrodactyly of finger HP:0100747 Macrodactyly of toe HP:0100748 Muscular edema HP:0100749 Chest pain HP:0100750 Atelectasis HP:0100751 Esophageal neoplasm HP:0100752 Abnormal liver lobulation HP:0100753 Schizophrenia HP:0100754 Mania HP:0100757 Pancreatoblastoma HP:0100758 Gangrene HP:0100759 Clubbing of fingers HP:0100760 Clubbing of toes HP:0100761 Visceral angiomatosis HP:0100762 Hemobilia HP:0100763 Abnormality of the lymphatic system HP:0100764 Lymphangioma HP:0100765 Abnormality of the tonsils HP:0100767 Abnormality of the placenta HP:0100768 Choriocarcinoma HP:0100769 Synovitis HP:0100770 Hyperperistalsis HP:0100771 Hypoperistalsis HP:0100773 Cartilage destruction HP:0100774 Hyperostosis HP:0100775 Dural ectasia HP:0100776 Recurrent pharyngitis HP:0100777 Exostoses HP:0100778 Cryoglobulinemia HP:0100779 Urogenital sinus anomaly HP:0100780 Conjunctival hamartoma HP:0100781 Abnormality of the sacroiliac joint HP:0100783 Breast aplasia HP:0100784 Peripheral arteriovenous fistula HP:0100785 Insomnia HP:0100786 Hypersomnia HP:0100787 Prostate neoplasm HP:0100788 Fused lips HP:0100789 Torus palatinus HP:0100790 Hernia HP:0100792 Acantholysis HP:0100795 Abnormally straight spine HP:0100796 Orchitis HP:0100797 Toenail dysplasia HP:0100798 Fingernail dysplasia HP:0100799 Neoplasm of the middle ear HP:0100800 Aplasia/Hypoplasia of the pancreas HP:0100801 Pancreatic aplasia HP:0100802 Malposition of the stomach HP:0100803 Abnormality of the periungual region HP:0100804 Ungual fibroma HP:0100806 Sepsis HP:0100808 Gastric diverticulum HP:0100809 Scalp tenderness HP:0100810 Pointed helix HP:0100812 Halitosis HP:0100813 Testicular torsion HP:0100814 Blue nevus HP:0100816 Lip hyperpigmentation HP:0100817 Renovascular hypertension HP:0100818 Long thorax HP:0100819 Intestinal fistula HP:0100820 Glomerulopathy HP:0100821 Urethrocele HP:0100822 Rectocele HP:0100823 Genital hernia HP:0100825 Cheilitis HP:0100826 Neoplasm of the nail HP:0100827 Lymphocytosis HP:0100828 Increase in T cell count HP:0100829 Galactorrhea HP:0100830 Round ear HP:0100832 Vitreous floaters HP:0100833 Neoplasm of the small intestine HP:0100834 Neoplasm of the large intestine HP:0100835 Benign neoplasm of the central nervous system HP:0100836 Malignant neoplasm of the central nervous system HP:0100837 Atrophodermia vermiculata HP:0100838 Recurrent cutaneous abscess formation HP:0100839 Hepatic agenesis HP:0100840 Aplasia/Hypoplasia of the eyebrow HP:0100841 Microgastria HP:0100842 Septo-optic dysplasia HP:0100843 Glioblastoma HP:0100844 Pancreatic fistula HP:0100845 Anaphylactic shock HP:0100847 Palmoplantar pustulosis HP:0100849 Neoplasm of the scrotum HP:0100850 Neoplasm of the penis HP:0100851 Abnormal emotion/affect behavior HP:0100852 Abnormal fear/anxiety-related behavior HP:0100853 Hypoplastic areola HP:0100856 Poorly ossified vertebrae HP:0100857 Flat sella turcica HP:0100858 Dilatation of celiac artery HP:0100859 Dilatation of superior mesenteric artery HP:0100860 Dilatation of Inferior mesenteric artery HP:0100861 Vertebral body sclerosis HP:0100864 Short femoral neck HP:0100865 Broad ischia HP:0100866 Short iliac bones HP:0100867 Duodenal stenosis HP:0100869 Palmar telangiectasia HP:0100870 Plantar telangiectasia HP:0100871 Abnormality of the palm HP:0100872 Abnormality of the plantar skin of foot HP:0100874 Thick hair HP:0100876 Infra-orbital crease HP:0100877 Renal diverticulum HP:0100878 Enlarged uterus HP:0100879 Enlarged ovaries HP:0100880 Nephrogenic rest HP:0100881 Congenital mesoblastic nephroma HP:0100882 Fibrous hamartoma HP:0100883 Chorangioma HP:0100889 Abnormality of the ductus choledochus HP:0100890 Cyst of the ductus choledochus HP:0100896 Rectal polyposis HP:0100898 Connective tissue nevi HP:0100923 Clavicular sclerosis HP:0100950 Decreased activity of 3-hydroxyacyl-CoA dehydrogenase HP:0100951 Enlarged fossa interpeduncularis HP:0100954 Open operculum HP:0100955 Giant cell granuloma of mandible HP:0100958 Narrow foramen obturatorium HP:0100959 Dense metaphyseal bands HP:0100960 Asymmetric ventricles HP:0100961 Enlarged hippocampus HP:0100962 Shyness HP:0100963 Hyperesthesia HP:0200000 Dysharmonic bone age HP:0200003 Splayed epiphyses HP:0200008 Intestinal polyposis HP:0200012 Short corpus callosum HP:0200015 Symmetric great toe depigmentation HP:0200016 Acrokeratosis HP:0200017 Cerebral white matter agenesis HP:0200018 Protanomaly HP:0200020 Corneal erosion HP:0200021 Down-sloping shoulders HP:0200022 Choroid plexus papilloma HP:0200023 Priapism HP:0200024 Premature chromatid separation HP:0200025 Mandibular pain HP:0200026 Ocular pain HP:0200028 Pretibial myxedema HP:0200029 Vasculitis in the skin HP:0200030 Punctate vasculitis skin lesions HP:0200032 Kayser-Fleischer ring HP:0200034 Papule HP:0200035 Skin plaque HP:0200036 Skin nodule HP:0200037 Skin vesicle HP:0200039 Pustule HP:0200040 Epidermal cyst HP:0200041 Skin erosion HP:0200042 Skin ulcer HP:0200043 Verrucae HP:0200044 Porokeratosis HP:0200046 Cat cry HP:0200047 Chondritis of pinna HP:0200048 Cyanotic episode HP:0200053 Hemihypotrophy of lower limb HP:0200054 Foot monodactyly HP:0200055 Small hand HP:0200056 Macular scar HP:0200057 Marcus Gunn pupil HP:0200058 Angiosarcoma HP:0200059 Metastatic angiosarcoma HP:0200063 Colorectal polyposis HP:0200064 Asymmetry of iris pigmentation HP:0200065 Chorioretinal degeneration HP:0200066 Ribbonlike corneal degeneration HP:0200067 Recurrent spontaneous abortion HP:0200068 Nonprogressive visual loss HP:0200070 Peripheral retinal atrophy HP:0200071 Peripheral vitreoretinal degeneration HP:0200072 Episodic quadriplegia HP:0200073 Respiratory insufficiency due to defective ciliary clearance HP:0200083 Severe limb shortening HP:0200084 Giant cell hepatitis HP:0200085 Limb tremor HP:0200094 Frontal open bite HP:0200095 Anterior open bite HP:0200096 Triangular-shaped open mouth HP:0200097 Oral mucosal blisters HP:0200098 Absent skin pigmentation HP:0200101 Decreased/absent ankle reflexes HP:0200102 Sparse or absent eyelashes HP:0200104 Absent fifth fingernail HP:0200105 Absent fifth toenail HP:0200109 Absent/shortened outer dynein arms HP:0200111 Absent stapes head HP:0200113 Aphalangy of hands and feet HP:0200114 Metabolic alkalosis HP:0200116 Distal ileal atresia HP:0200117 Recurrent upper and lower respiratory tract infections HP:0200118 Malabsorption of Vitamin B12 HP:0200119 Acute hepatitis HP:0200120 Chronic active hepatitis HP:0200122 Atypical or prolonged hepatitis HP:0200123 Chronic hepatitis HP:0200124 Chronic hepatitis due to cryptospridium infection HP:0200125 Mitochondrial respiratory chain defects HP:0200127 Atrial cardiomyopathy HP:0200128 Biventricular hypertrophy HP:0200129 Calcific mitral stenosis HP:0200133 Lumbosacral meningocele HP:0200134 Epileptic encephalopathy HP:0200136 Oral-pharyngeal dysphagia HP:0200138 Bilateral choanal atresia/stenosis HP:0200141 Small, conical teeth HP:0200143 Megaloblastic erythroid hyperplasia HP:0200146 Cystic medial necrosis of the aorta HP:0200147 Neuronal loss in basal ganglia HP:0200148 Abnormal liver function tests during pregnancy HP:0200149 CSF lymphocytic pleiocytosis HP:0200150 Increased serum bile acid concentration during pregnancy HP:0200151 Cutaneous mastocytosis HP:0200153 Agenesis of lateral incisor HP:0400000 Tall chin HP:0400004 Long ear HP:0400005 Short ear HP:0400008 Menometrorrhagia HP:0430000 Abnormality of the frontal bone HP:0430005 Abnormality of ethmoid bone HP:0430007 Symblepharon HP:0430022 Abnormality of the sphenoid sinus HP:0430026 Abnormality of the shape of the midface HP:0430028 Hyperplasia of the maxilla HP:3000005 Abnormality of masseter muscle HP:3000010 Abnormality of orbicularis oris muscle HP:3000019 Abnormality of buccal mucosa HP:3000032 Abnormality of central retinal artery HP:3000037 Abnormality of neck blood vessel HP:3000040 Abnormality of ethmoid sinus HP:3000042 Abnormality of jugular vein HP:3000062 Abnormality of internal carotid artery HP:3000077 Abnormality of mandible condylar process MP:0000023 abnormal ear position MP:0000087 absent mandible MP:0000097 short maxilla MP:0000124 absent teeth MP:0000133 abnormal long bone metaphysis morphology MP:0000158 absent sternum MP:0000164 abnormal cartilage development MP:0000166 abnormal chondrocyte morphology MP:0000208 decreased hematocrit MP:0000245 abnormal erythropoiesis MP:0000278 abnormal myocardial fiber morphology MP:0000280 thin ventricular wall MP:0000282 abnormal interatrial septum morphology MP:0000285 abnormal heart valve morphology MP:0000297 abnormal atrioventricular cushion morphology MP:0000346 broad head MP:0000351 increased cell proliferation MP:0000371 diluted coat color MP:0000378 absent hair follicles MP:0000411 shiny fur MP:0000417 short hair MP:0000440 domed cranium MP:0000447 flattened snout MP:0000455 abnormal maxilla morphology MP:0000458 abnormal mandible morphology MP:0000523 cortical renal glomerulopathies MP:0000548 long limbs MP:0000550 abnormal forelimb morphology MP:0000556 abnormal hindlimb morphology MP:0000571 interdigital webbing MP:0000574 abnormal foot pad morphology MP:0000577 absent eccrine glands MP:0000580 deformed nails MP:0000583 long toenails MP:0000585 kinked tail MP:0000592 short tail MP:0000607 abnormal hepatocyte morphology MP:0000622 increased salivation MP:0000627 abnormal mammary gland morphology MP:0000702 enlarged lymph nodes MP:0000706 small thymus MP:0000738 impaired muscle contractility MP:0000746 weakness MP:0000749 muscle degeneration MP:0000750 abnormal muscle regeneration MP:0000754 paresis MP:0000755 hindlimb paralysis MP:0000778 abnormal nervous system tract morphology MP:0000781 decreased corpus callosum size MP:0000812 abnormal dentate gyrus morphology MP:0000857 abnormal cerebellar foliation MP:0000876 Purkinje cell degeneration MP:0000877 abnormal Purkinje cell morphology MP:0000880 decreased Purkinje cell number MP:0000919 cranioschisis MP:0000947 convulsive seizures MP:0000950 abnormal seizure response to pharmacological agent MP:0000956 decreased spinal cord size MP:0001096 abnormal glossopharyngeal ganglion morphology MP:0001155 arrest of spermatogenesis MP:0001194 dermatitis MP:0001200 thick skin MP:0001212 skin lesions MP:0001220 epidermal necrosis MP:0001265 decreased body size MP:0001290 delayed eyelid opening MP:0001319 irregularly shaped pupil MP:0001324 abnormal eye pigmentation MP:0001346 abnormal lacrimal gland morphology MP:0001361 social withdrawal MP:0001363 increased anxiety-related response MP:0001382 abnormal nursing MP:0001394 circling MP:0001402 hypoactivity MP:0001405 impaired coordination MP:0001407 short stride length MP:0001435 no suckling reflex MP:0001443 poor grooming MP:0001458 abnormal object recognition memory MP:0001491 unresponsive to tactile stimuli MP:0001496 audiogenic seizures MP:0001501 abnormal sleep pattern MP:0001505 hunched posture MP:0001524 impaired limb coordination MP:0001525 impaired balance MP:0001529 abnormal vocalization MP:0001547 abnormal lipid level MP:0001586 abnormal erythrocyte cell number MP:0001661 extended life span MP:0001675 abnormal ectoderm development MP:0001745 increased circulating corticosterone level MP:0001792 impaired wound healing MP:0001800 abnormal humoral immune response MP:0001882 abnormal lactation MP:0001921 reduced fertility MP:0001927 abnormal estrous cycle MP:0001928 abnormal ovulation MP:0001930 abnormal meiosis MP:0001934 increased litter size MP:0001935 decreased litter size MP:0001937 abnormal sexual maturation MP:0001940 testis hypoplasia MP:0001950 abnormal respiratory sounds MP:0001961 abnormal reflex MP:0001963 abnormal hearing physiology MP:0001993 abnormal blinking MP:0002063 abnormal learning/memory/conditioning MP:0002067 abnormal sensory capabilities/reflexes/nociception MP:0002080 prenatal lethality MP:0002082 postnatal lethality MP:0002083 premature death MP:0002084 abnormal developmental patterning MP:0002089 abnormal postnatal growth/weight/body size MP:0002098 abnormal vibrissa morphology MP:0002102 abnormal ear morphology MP:0002109 abnormal limb morphology MP:0002113 abnormal skeleton development MP:0002118 abnormal lipid homeostasis MP:0002135 abnormal kidney morphology MP:0002161 abnormal fertility/fecundity MP:0002166 altered tumor susceptibility MP:0002177 abnormal outer ear morphology MP:0002182 abnormal astrocyte morphology MP:0002191 abnormal artery morphology MP:0002209 decreased germ cell number MP:0002211 abnormal primary sex determination MP:0002212 abnormal secondary sex determination MP:0002269 muscular atrophy MP:0002279 abnormal diaphragm morphology MP:0002332 abnormal exercise endurance MP:0002397 abnormal bone marrow morphology MP:0002409 decreased susceptibility to infection MP:0002410 decreased susceptibility to viral infection MP:0002411 decreased susceptibility to bacterial infection MP:0002427 disproportionate dwarf MP:0002451 abnormal macrophage physiology MP:0002534 abnormal type IV hypersensitivity reaction MP:0002551 abnormal blood coagulation MP:0002571 senility MP:0002591 decreased mean corpuscular volume MP:0002653 abnormal ependyma morphology MP:0002654 spongiform encephalopathy MP:0002657 chondrodystrophy MP:0002699 abnormal vitreous body morphology MP:0002703 abnormal renal tubule morphology MP:0002715 decreased glycogen catabolism rate MP:0002766 situs inversus MP:0002768 small adrenal glands MP:0002792 abnormal retinal vasculature morphology MP:0002800 abnormal short term object recognition memory MP:0002874 decreased hemoglobin content MP:0002896 abnormal bone mineralization MP:0002907 abnormal parturition MP:0002938 white spotting MP:0002950 abnormal neural crest cell migration MP:0002980 abnormal postural reflex MP:0002987 abnormal urine osmolality MP:0002995 primary sex reversal MP:0003048 abnormal cervical vertebrae morphology MP:0003055 abnormal long bone epiphyseal plate morphology MP:0003078 aphakia MP:0003089 decreased skin tensile strength MP:0003131 increased erythrocyte cell number MP:0003136 yellow coat color MP:0003172 abnormal lysosome physiology MP:0003203 increased neuron apoptosis MP:0003222 increased cardiomyocyte apoptosis MP:0003224 neuron degeneration MP:0003289 abnormal intestinal peristalsis MP:0003329 amyloid beta deposits MP:0003360 abnormal depression-related behavior MP:0003370 increased circulating estrogen level MP:0003398 increased skeletal muscle size MP:0003416 premature bone ossification MP:0003426 pulmonary interstitial fibrosis MP:0003456 absent tail MP:0003553 abnormal foreskin morphology MP:0003631 nervous system phenotype MP:0003677 abnormal ear lobe morphology MP:0003705 abnormal hypodermis morphology MP:0003827 abnormal Wolffian duct morphology MP:0003829 impaired febrile response MP:0003846 matted coat MP:0003849 greasy coat MP:0003852 skeletal muscle necrosis MP:0003866 abnormal defecation MP:0003871 abnormal myelin sheath morphology MP:0003945 abnormal lymphocyte physiology MP:0003956 abnormal body size MP:0003971 abnormal thyroid-stimulating hormone level MP:0003993 abnormal ventral spinal root morphology MP:0003996 clonic seizures MP:0004021 abnormal rod electrophysiology MP:0004034 belly blaze MP:0004047 abnormal milk composition MP:0004097 abnormal cerebellar cortex morphology MP:0004134 abnormal chest morphology MP:0004145 abnormal muscle electrophysiology MP:0004147 increased porphyrin level MP:0004148 increased compact bone thickness MP:0004174 abnormal spine curvature MP:0004231 abnormal calcium ion homeostasis MP:0004272 abnormal basement membrane morphology MP:0004592 small mandible MP:0004701 decreased circulating insulin-like growth factor I level MP:0004806 absent germ cells MP:0004811 abnormal neuron physiology MP:0004818 increased skeletal muscle mass MP:0004884 abnormal testis physiology MP:0004967 abnormal kidney epithelium morphology MP:0005023 abnormal wound healing MP:0005026 decreased susceptibility to parasitic infection MP:0005027 increased susceptibility to parasitic infection MP:0005058 abnormal lysosome morphology MP:0005074 impaired granulocyte bactericidal activity MP:0005095 decreased T cell proliferation MP:0005123 increased circulating growth hormone level MP:0005137 increased growth hormone level MP:0005140 decreased cardiac muscle contractility MP:0005162 carpoptosis MP:0005171 absent coat pigmentation MP:0005191 head tilt MP:0005258 ocular hypertension MP:0005270 abnormal zygomatic bone morphology MP:0005319 abnormal enzyme/coenzyme level MP:0005325 abnormal renal glomerulus morphology MP:0005332 abnormal amino acid level MP:0005350 increased susceptibility to autoimmune disorder MP:0005369 muscle phenotype MP:0005375 adipose tissue phenotype MP:0005386 behavior/neurological phenotype MP:0005390 skeleton phenotype MP:0005391 vision/eye phenotype MP:0005404 abnormal axon morphology MP:0005409 darkened coat color MP:0005422 osteosclerosis MP:0005425 increased macrophage cell number MP:0005438 abnormal glycogen homeostasis MP:0005440 increased glycogen level MP:0005449 abnormal food intake MP:0005473 decreased triiodothyronine level MP:0005475 abnormal circulating thyroxine level MP:0005526 decreased renal plasma flow rate MP:0005528 decreased renal glomerular filtration rate MP:0005532 abnormal vascular resistance MP:0005533 increased body temperature MP:0005560 decreased circulating glucose level MP:0005563 abnormal hemoglobin content MP:0005576 decreased pulmonary ventilation MP:0005598 decreased ventricle muscle contractility MP:0005620 abnormal muscle contractility MP:0005638 hemochromatosis MP:0005655 increased aggression MP:0006036 abnormal mitochondrial physiology MP:0006113 abnormal heart septum morphology MP:0006218 large optic disc MP:0006262 increased testis tumor incidence MP:0006315 abnormal urine protein level MP:0006402 small molars MP:0006433 abnormal articular cartilage morphology MP:0008025 brain vacuoles MP:0008235 increased susceptibility to neuronal excitotoxicity MP:0008237 abnormal ventral coat pigmentation MP:0008272 abnormal endochondral bone ossification MP:0008280 abnormal male germ cell apoptosis MP:0008469 abnormal protein level MP:0008480 absent eye pigmentation MP:0008540 abnormal cerebral hemisphere morphology MP:0008770 decreased survivor rate MP:0008771 elongated vertebral column MP:0008840 abnormal spike wave discharge MP:0008842 lipofuscinosis MP:0008861 abnormal hair shedding MP:0008898 abnormal acrosome morphology MP:0008912 nervous MP:0008948 decreased neuron number MP:0008961 abnormal basal metabolism MP:0008965 increased basal metabolism MP:0008974 proportional dwarf MP:0009008 delayed estrous cycle MP:0009010 abnormal diestrus MP:0009214 vas deferens hypoplasia MP:0009239 short sperm flagellum MP:0009267 abnormal cerebellum fissure morphology MP:0009350 decreased urine pH MP:0009419 skeletal muscle fibrosis MP:0009450 abnormal axon fasciculation MP:0009552 urinary bladder obstruction MP:0009674 decreased birth weight MP:0009808 decreased oligodendrocyte number MP:0009859 eye opacity MP:0009862 abnormal aorta elastic tissue morphology MP:0009978 abnormal cerebellum white matter morphology MP:0010071 abnormal pruritus MP:0010163 hemolysis MP:0010231 transverse fur striping MP:0010273 increased classified tumor incidence MP:0010423 heart right ventricle aneurysm MP:0010579 increased heart left ventricle size MP:0010630 abnormal cardiac muscle tissue morphology MP:0010700 hair follicle comedo MP:0010752 impaired mucociliary clearance MP:0011049 impaired adaptive thermogenesis MP:0011227 abnormal vitamin B12 level MP:0011238 abnormal inner ear development MP:0011275 abnormal behavioral response to light MP:0011320 abnormal glomerular capillary morphology MP:0011396 abnormal sleep behavior MP:0011425 abnormal kidney interstitium morphology MP:0011464 bilirubinuria MP:0011468 abnormal urine amino acid level MP:0011475 abnormal glycosaminoglycan level MP:0011494 abnormal pigmentation pattern MP:0011496 abnormal head size MP:0011566 abnormal complement protein level MP:0011625 cystolithiasis MP:0011904 abnormal Schwann cell physiology MP:0011940 decreased food intake MP:0011945 increased eating frequency MP:0011946 decreased eating frequency MP:0011977 abnormal sodium ion homeostasis MP:0011978 abnormal potassium ion homeostasis MP:0012106 impaired exercise endurance MP:0012315 impaired learning MP:0012335 increased circulating homocysteine level MP:0012604 decreased glutathione level MP:0013115 focal hair loss in abdominal region MP:0013116 focal hair loss in head/neck region MP:0013119 abdomen swellings MP:0013123 head/neck swellings MP:0013136 genital discharge MP:0013138 thin body MP:0013139 moribund MP:0013145 eye discharge MP:0013272 abnormal translation MP:0013559 abnormal exocrine gland physiology MP:0013848 subcutaneous edema MP:0020169 increased thyroid gland weight MP:0020212 impaired leukocyte migration MP:0020214 susceptible to malignant hyperthermia MP:0020215 impaired blood coagulation MP:0020216 decreased circulating complement protein level MP:0020221 reduced foot pad pigmentation MP:0020224 decreased alertness MP:0020230 subcutaneous adipose tissue degeneration MP:0020240 increased skeletal muscle cell apoptosis MP:0020242 enlarged paws MP:0020245 decreased pyruvate kinase activity MP:0020248 decreased circulating arginase level MP:0020251 decreased argininosuccinate synthetase level MP:0020254 decreased collagen level MP:0020255 absent circulating factor XII protein MP:0020258 decreased circulating factor XII level MP:0020260 absent beta-galactosidase protein MP:0020266 absent galactosylceramidase MP:0020269 decreased beta-mannosidase level MP:0020272 decreased branched-chain alpha-keto acid dehydrogenase level MP:0020275 decreased N-acetylgalactosamine-4-sulfatase protein level MP:0020278 decreased glycogen debranching enzyme level MP:0020288 ectopic limbs MP:0020289 astasia MP:0020290 floppy ears MP:0020292 decreased dystrophin level MP:0020295 decreased guanylate cyclase activating protein-2 level MP:0020298 decreased UDP-N-acetylglucosamine-1-phosphotransferase level MP:0020300 long tongue MP:0020302 large horns MP:0020303 small horns MP:0020304 abnormal horn morphology MP:0020305 abnormal horn pigmentation MP:0020306 absent horns MP:0020309 increased creatine kinase activity MP:0020311 decreased hydroxymethylbilane synthase activity MP:0020314 decreased palmitoyl-(protein) hydrolase activity MPATH:160PHENOTYPE metaplasia phenotype NBO:0000056PHENOTYPE walking behavior phenotype NBO:0000097PHENOTYPE response to novel environment phenotype NBO:0000607PHENOTYPE cognitive behavior phenotype NBO:0000747PHENOTYPE jaw movement phenotype UBERON:0000023PHENOTYPE wing phenotype UBERON:0001029PHENOTYPE obsolete neuromuscular junction phenotype UBERON:0001090PHENOTYPE synovial fluid phenotype UBERON:0001134PHENOTYPE skeletal muscle tissue phenotype UBERON:0001467PHENOTYPE shoulder phenotype UBERON:0001799PHENOTYPE vitreous chamber of eyeball phenotype UBERON:0001811PHENOTYPE conjunctiva phenotype UBERON:0002107PHENOTYPE liver phenotype UBERON:0002331PHENOTYPE umbilical cord phenotype UBERON:0002371PHENOTYPE bone marrow phenotype UBERON:0002537PHENOTYPE hermaphrodite gonad phenotype UBERON:0002542PHENOTYPE scale phenotype UBERON:0003657PHENOTYPE limb joint phenotype UBERON:0004123PHENOTYPE myocardial layer phenotype