EFO:0000180	HIV-1 infection
EFO:0000409	disease free survival
EFO:0000482	event free survival time
EFO:0000483	exercise
EFO:0000519	glioblastoma multiforme
EFO:0000638	overall survival
EFO:0000714	survival time
EFO:0001072	memory impairment
EFO:0001382	puberty
EFO:0001425	ischemic cardiomyopathy
EFO:0002503	cardiac hypertrophy
EFO:0002614	insulin resistance
EFO:0002892	thyroid carcinoma
EFO:0003015	aggressive behavior
EFO:0003762	vitamin D deficiency
EFO:0003776	coronary artery bypass
EFO:0003784	skin pigmentation
EFO:0003843	pain
EFO:0003892	pulmonary function measurement
EFO:0003896	left ventricular hypertrophy
EFO:0003907	deep vein thrombosis
EFO:0003912	ankle brachial index
EFO:0003917	premature birth
EFO:0003923	bone density
EFO:0003924	hair color
EFO:0003925	cognition
EFO:0003926	neuropsychological test
EFO:0003939	energy intake
EFO:0003940	physical activity
EFO:0003947	personality
EFO:0003949	eye color
EFO:0003961	hormone replacement therapy
EFO:0003963	freckles
EFO:0004279	suntan
EFO:0004285	albuminuria
EFO:0004294	left atrial function
EFO:0004295	left ventricular function
EFO:0004296	thyroid function
EFO:0004297	clinical laboratory measurement
EFO:0004298	cardiovascular measurement
EFO:0004300	longevity
EFO:0004301	blood viscosity
EFO:0004302	anthropometric measurement
EFO:0004304	blood sedimentation
EFO:0004305	erythrocyte count
EFO:0004307	glucose tolerance test
EFO:0004308	leukocyte count
EFO:0004309	platelet count
EFO:0004310	partial thromboplastin time
EFO:0004311	heart function measurement
EFO:0004312	vital capacity
EFO:0004313	maximal midexpiratory flow rate
EFO:0004314	forced expiratory volume
EFO:0004315	drinking behavior
EFO:0004317	extraversion
EFO:0004318	smoking behavior
EFO:0004319	smoking cessation
EFO:0004320	suicidal ideation
EFO:0004321	attempted suicide
EFO:0004323	mental process
EFO:0004324	body weights and measures
EFO:0004325	blood pressure
EFO:0004326	heart rate
EFO:0004327	electrocardiography
EFO:0004328	exercise test
EFO:0004329	alcohol drinking
EFO:0004330	coffee consumption
EFO:0004333	episodic memory
EFO:0004335	short-term memory
EFO:0004337	intelligence
EFO:0004338	body weight
EFO:0004339	body height
EFO:0004340	body mass index
EFO:0004341	body fat distribution
EFO:0004342	waist circumference
EFO:0004343	waist-hip ratio
EFO:0004344	birth weight
EFO:0004345	corneal topography
EFO:0004346	neuroimaging measurement
EFO:0004348	hematocrit
EFO:0004350	reasoning
EFO:0004351	resting heart rate
EFO:0004352	mortality
EFO:0004354	circadian rhythm
EFO:0004357	electroencephalogram measurement
EFO:0004358	event-related brain oscillation
EFO:0004363	information processing speed
EFO:0004365	personality trait
EFO:0004458	C-reactive protein measurement
EFO:0004459	ferritin measurement
EFO:0004460	soluble transferrin receptor measurement
EFO:0004461	iron biomarker measurement
EFO:0004462	PR interval
EFO:0004463	angiotensin converting enzyme activity measurement
EFO:0004464	brain measurement
EFO:0004465	fasting blood glucose measurement
EFO:0004466	fasting blood insulin measurement
EFO:0004467	insulin measurement
EFO:0004468	glucose measurement
EFO:0004469	HOMA-B
EFO:0004471	insulin sensitivity measurement
EFO:0004501	HOMA-IR
EFO:0004502	adiponectin measurement
EFO:0004503	hematological measurement
EFO:0004504	serum hepcidin measurement
EFO:0004505	telomere length
EFO:0004506	monocyte early outgrowth colony forming unit
EFO:0004507	D dimer measurement
EFO:0004508	spine bone size
EFO:0004509	hemoglobin measurement
EFO:0004511	femoral neck bone geometry
EFO:0004514	bone quantitative ultrasound measurement
EFO:0004515	muscle measurement
EFO:0004517	arterial stiffness measurement
EFO:0004518	serum creatinine measurement
EFO:0004519	soluble P-selectin measurement
EFO:0004520	ICAM-1 measurement
EFO:0004522	adhesion molecule measurement
EFO:0004526	mean corpuscular volume
EFO:0004527	mean corpuscular hemoglobin
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004529	lipid measurement
EFO:0004530	triglyceride measurement
EFO:0004531	urate measurement
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0004533	alkaline phosphatase measurement
EFO:0004534	creatine kinase measurement
EFO:0004535	serum albumin measurement
EFO:0004536	total blood protein measurement
EFO:0004541	A1C measurement
EFO:0004550	amygdala reactivity measurement
EFO:0004555	glycoprotein measurement
EFO:0004556	antibody measurement
EFO:0004565	serum IgG measurement
EFO:0004568	serum non-albumin protein measurement
EFO:0004569	brain serotonin transporter measurement
EFO:0004570	bilirubin measurement
EFO:0004571	butyrylcholinesterase measurement
EFO:0004572	C4BP measurement
EFO:0004573	chemerin measurement
EFO:0004574	total cholesterol measurement
EFO:0004575	e-selectin measurement
EFO:0004576	fetal hemoglobin measurement
EFO:0004577	infant head circumference
EFO:0004578	homocysteine measurement
EFO:0004579	serum IgE measurement
EFO:0004581	interleukin 18 measurement
EFO:0004582	liver enzyme measurement
EFO:0004584	mean platelet volume
EFO:0004587	lymphocyte count
EFO:0004589	brachial circumference
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004615	apolipoprotein B measurement
EFO:0004617	cystatin C measurement
EFO:0004618	vitamin K measurement
EFO:0004619	factor VII measurement
EFO:0004620	vitamin B12 measurement
EFO:0004621	vitamin B6 measurement
EFO:0004622	sphingolipid measurement
EFO:0004623	fibrinogen measurement
EFO:0004624	prostate specific antigen measurement
EFO:0004625	progranulin measurement
EFO:0004626	IGFBP-3 measurement
EFO:0004627	IGF-1 measurement
EFO:0004628	insulin like growth factor measurement
EFO:0004629	von Willebrand factor measurement
EFO:0004630	factor VIII measurement
EFO:0004631	vitamin D measurement
EFO:0004632	nevus count
EFO:0004633	protein C measurement
EFO:0004634	coagulation factor measurement
EFO:0004635	leptin receptor measurement
EFO:0004637	protein S measurement
EFO:0004639	phospholipid measurement
EFO:0004640	haptoglobin measurement
EFO:0004641	white matter integrity
EFO:0004642	cortisol secretion measurement
EFO:0004645	response to vaccine
EFO:0004647	response to platinum based chemotherapy
EFO:0004653	response to TNF antagonist
EFO:0004670	beta-amyloid 1-42 measurement
EFO:0004682	QT interval
EFO:0004684	tumor necrosis factor-alpha measurement
EFO:0004685	hip geometry
EFO:0004694	factor XI measurement
EFO:0004695	intraocular pressure measurement
EFO:0004696	sex hormone-binding globulin measurement
EFO:0004697	estradiol measurement
EFO:0004699	gambling behaviour
EFO:0004703	age at menarche
EFO:0004704	age at menopause
EFO:0004713	FEV/FEC ratio
EFO:0004714	sexual dysfunction
EFO:0004723	coronary artery calcification
EFO:0004725	metabolite measurement
EFO:0004728	serum amyloid A protein measurement
EFO:0004729	vitamin measurement
EFO:0004730	hormone measurement
EFO:0004731	eye measurement
EFO:0004732	lipoprotein measurement
EFO:0004733	anti-cyclic citrullinated peptide antibody measurement
EFO:0004735	serum alanine aminotransferase measurement
EFO:0004736	aspartate aminotransferase measurement
EFO:0004739	circulating cell free DNA measurement
EFO:0004741	blood urea nitrogen measurement
EFO:0004742	renal system measurement
EFO:0004743	facial morphology
EFO:0004744	matrix metalloproteinase measurement
EFO:0004745	NT-proBNP measurement
EFO:0004746	lipoprotein-associated phospholipase A(2) measurement
EFO:0004747	protein measurement
EFO:0004748	thyroid stimulating hormone measurement
EFO:0004749	CCL2 measurement
EFO:0004750	interleukin 10 measurement
EFO:0004751	CCL4 measurement
EFO:0004752	parathyroid hormone measurement
EFO:0004753	interleukin 12 measurement
EFO:0004754	interleukin 1 receptor antagonist measurement
EFO:0004760	t-tau measurement
EFO:0004761	uric acid measurement
EFO:0004762	vascular endothelial growth factor measurement
EFO:0004763	p-tau measurement
EFO:0004765	visceral adipose tissue measurement
EFO:0004766	subcutaneous adipose tissue measurement
EFO:0004767	visceral:subcutaneous adipose tissue ratio
EFO:0004768	follicle stimulating hormone measurement
EFO:0004769	anti-Mullerian hormone measurement
EFO:0004770	ovarian reserve
EFO:0004771	visual cortical surface area measurement
EFO:0004778	self rated health
EFO:0004782	behavior or behavioral disorder measurement
EFO:0004784	self reported educational attainment
EFO:0004785	South Texas Assessment of Neurocognition
EFO:0004789	atrial natriuretic factor measurement
EFO:0004790	CD40 ligand measurement
EFO:0004791	tissue plasminogen activator measurement
EFO:0004792	plasminogen activator inhibitor 1 measurement
EFO:0004800	frontal theta oscillation measurement
EFO:0004802	family size
EFO:0004803	male fertility
EFO:0004804	birth rate
EFO:0004805	formal thought disorder
EFO:0004806	asbestos exposure measurement
EFO:0004807	short sleep
EFO:0004808	L lactate dehydrogenase measurement
EFO:0004809	fructose-bisphosphate aldolase measurement
EFO:0004810	interleukin-6 measurement
EFO:0004811	interleukin-8 measurement
EFO:0004812	interleukin-1 beta measurement
EFO:0004814	interleukin-6 receptor measurement
EFO:0004815	alpha macroglobulin measurement
EFO:0004818	transforming growth factor beta measurement
EFO:0004819	resistin measurement
EFO:0004820	sex ratio
EFO:0004825	temperament and character inventory
EFO:0004827	economic and social preference
EFO:0004829	response to irinotecan
EFO:0004830	caudate nucleus volume
EFO:0004831	RR interval
EFO:0004832	optic disc size measurement
EFO:0004833	neutrophil count
EFO:0004838	calcium measurement
EFO:0004839	CD4:CD8 lymphocyte ratio
EFO:0004840	cortical thickness
EFO:0004841	digit length ratio
EFO:0004842	eosinophil count
EFO:0004843	vitamin B measurement
EFO:0004844	hip bone size
EFO:0004845	magnesium measurement
EFO:0004847	age at onset
EFO:0004857	vitamin A measurement
EFO:0004859	abdominal aortic artery calcification
EFO:0004860	common carotid intimal medial thickness
EFO:0004861	phosphorus measurement
EFO:0004862	phytosterol measurement
EFO:0004863	recombination rate
EFO:0004864	renal sinus adipose tissue measurement
EFO:0004865	thyroid volume
EFO:0004866	autoantibody measurement
EFO:0004867	vitamin E measurement
EFO:0004868	volumetric brain MRI
EFO:0004869	YKL40 measurement
EFO:0004870	sleep measurement
EFO:0004873	cytokine measurement
EFO:0004874	memory performance
EFO:0004875	mathematical ability
EFO:0004880	urinary arsenic measurement
EFO:0004881	asparaginase hypersensitivity
EFO:0004884	breast size
EFO:0004885	early cardiac repolarization measurement
EFO:0004886	intracranial volume measurement
EFO:0004887	maximal oxygen uptake measurement
EFO:0004908	testosterone measurement
EFO:0004909	dihydrotestosterone measurement
EFO:0004912	serum IgA measurement
EFO:0004913	lentiform nucleus measurement
EFO:0004918	age at diagnosis
EFO:0004920	progression free survival
EFO:0004952	disease recurrence
EFO:0004953	date of diagnosis
EFO:0004979	comprehensive strength index
EFO:0004980	appendicular lean mass
EFO:0004983	complement C3 measurement
EFO:0004984	complement C4 measurement
EFO:0004985	platelet reactivity measurement
EFO:0004993	serum IgM measurement
EFO:0004995	lean body mass
EFO:0004999	N-glycan measurement
EFO:0005000	leptin measurement
EFO:0005001	phenylalanine measurement
EFO:0005002	lysine measurement
EFO:0005035	hippocampal volume
EFO:0005036	platelet measurement
EFO:0005037	aortic root size
EFO:0005038	hair morphology
EFO:0005039	hippocampal atrophy
EFO:0005043	cardiac troponin T measurement
EFO:0005047	erythrocyte measurement
EFO:0005053	internal carotid intimal medial thickness
EFO:0005054	QRS complex
EFO:0005055	QRS duration
EFO:0005057	myoglobin measurement
EFO:0005058	tyrosine measurement
EFO:0005059	acylcarnitine measurement
EFO:0005080	CC16 measurement
EFO:0005081	surfactant protein D measurement
EFO:0005089	whole-brain volume
EFO:0005090	basophil count
EFO:0005091	monocyte count
EFO:0005092	entorhinal cortical volume
EFO:0005093	hip circumference
EFO:0005094	P wave duration
EFO:0005095	PR segment
EFO:0005106	body composition measurement
EFO:0005108	arm span
EFO:0005109	energy expenditure
EFO:0005110	fatty acid measurement
EFO:0005111	folic acid measurement
EFO:0005112	gestational age
EFO:0005114	head circumference
EFO:0005115	metabolic rate measurement
EFO:0005116	urinary metabolite measurement
EFO:0005117	CCL5 measurement
EFO:0005118	IGFBP-1 measurement
EFO:0005119	antioxidant measurement
EFO:0005126	arylesterase enzyme measurement
EFO:0005127	cancer biomarker measurement
EFO:0005128	albumin:globulin ratio measurement
EFO:0005130	thyroxine measurement
EFO:0005131	HVA measurement
EFO:0005132	5-HIAA measurement
EFO:0005133	MHPG measurement
EFO:0005134	amino acid measurement
EFO:0005139	serum ceruloplasmin measurement
EFO:0005187	C-peptide measurement
EFO:0005188	CCL11 measurement
EFO:0005189	respiratory quotient
EFO:0005190	urinary nitrogen measurement
EFO:0005191	waist height ratio
EFO:0005192	red blood cell distribution width
EFO:0005193	serum IgG glycosylation measurement
EFO:0005194	amyloid-beta measurement
EFO:0005195	response to cholinesterase inhibitor
EFO:0005196	vasoactive peptide measurement
EFO:0005197	beta-2 microglobulin measurement
EFO:0005199	renal transplant outcome measurement
EFO:0005200	antiphospholipid antibody measurement
EFO:0005201	height growth measurement
EFO:0005202	response to hydrochlorothiazide
EFO:0005205	response to dabigatran etexilate
EFO:0005206	oligoclonal band measurement
EFO:0005208	glomerular filtration rate
EFO:0005210	brain connectivity measurement
EFO:0005211	aspirin hydrolysis measurement
EFO:0005213	central corneal thickness
EFO:0005229	reading
EFO:0005230	anxiety
EFO:0005241	employment status
EFO:0005243	myeloperoxidase measurement
EFO:0005244	gastric bypass
EFO:0005245	body weight loss
EFO:0005247	anti-Helicobacter pylori serum IgG measurement
EFO:0005257	response to anthracycline-based chemotherapy
EFO:0005260	response to antimicrotubule agent
EFO:0005266	serum selenium measurement
EFO:0005267	serum copper measurement
EFO:0005268	serum zinc measurement
EFO:0005271	sleep duration
EFO:0005272	sleep quality
EFO:0005273	sleep depth
EFO:0005274	sleep time
EFO:0005275	dihydroxy docosatrienoic acid measurement
EFO:0005276	hydroxy-leucine measurement
EFO:0005278	cardiovascular disease biomarker measurement
EFO:0005280	sleep latency
EFO:0005298	allergic sensitization measurement
EFO:0005299	non-word reading
EFO:0005300	word reading
EFO:0005301	reading and spelling ability
EFO:0005318	axial length measurement
EFO:0005322	callous-unemotional behaviour
EFO:0005323	post-operative sign or symptom
EFO:0005324	post-operative sensory disturbance
EFO:0005325	response to angiotensin-converting enzyme inhibitor
EFO:0005401	response to high sodium diet
EFO:0005402	response to low sodium diet
EFO:0005403	response to dietary potassium supplementation
EFO:0005404	response to cold pressor test
EFO:0005405	response to antihypertensive drug
EFO:0005408	pyroglutamine measurement
EFO:0005409	fat body mass
EFO:0005412	functional impairment measurement
EFO:0005413	joint damage measurement
EFO:0005414	airway hyperresponsiveness
EFO:0005415	serum alpha-1-antitrypsin measurement
EFO:0005416	serum ST2 measurement
EFO:0005417	response to mTOR inhibitor
EFO:0005418	serum dimethylarginine measurement
EFO:0005419	contrast sensitivity measurement
EFO:0005420	grey matter volume measurement
EFO:0005426	autism spectrum disorder symptom
EFO:0005427	social communication impairment
EFO:0005429	borderline personality disorder symptom
EFO:0005430	nicotine use
EFO:0005431	illegal drug consumption
EFO:0005432	non-substance related disinhibited behaviour
EFO:0005512	estrogen receptor status
EFO:0005514	HER2 status
EFO:0005526	response to alcohol
EFO:0005527	ejection fraction measurement
EFO:0005528	parasitemia measurement
EFO:0005530	Trypanosoma cruzi seropositivity
EFO:0005533	response to non-steroidal anti-inflammatory
EFO:0005536	nitric oxide exhalation measurement
EFO:0005538	thrombin generation potential measurement
EFO:0005653	serum metabolite measurement
EFO:0005654	velocity of sound measurement
EFO:0005655	response to cytosine arabinoside
EFO:0005657	response to protease inhibitor
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0005659	plasma beta-amyloid 1-40 measurement
EFO:0005660	plasma beta-amyloid 1-42 measurement
EFO:0005661	Child Behaviour Checklist assessment
EFO:0005663	urinary uromodulin measurement
EFO:0005664	blood metabolite measurement
EFO:0005665	white matter hyperintensity measurement
EFO:0005666	thyroid peroxidase antibody measurement
EFO:0005667	urinary albumin excretion rate
EFO:0005668	anterior chamber depth measurement
EFO:0005670	smoking initiation
EFO:0005671	smoking behaviour measurement
EFO:0005673	chronic mucus hypersecretion
EFO:0005674	white matter microstructure measurement
EFO:0005675	vitamin D-binding protein measurement
EFO:0005677	puberty onset measurement
EFO:0005680	omega-6 polyunsaturated fatty acid measurement
EFO:0005691	plasma trimethylamine N-oxide measurement
EFO:0005760	serum carcinoembryonic antigen measurement
EFO:0005762	neuropathic pain
EFO:0005763	pulse pressure measurement
EFO:0005766	skin fluorescence measurement
EFO:0005843	cortisol measurement
EFO:0005844	response to dietary antigen
EFO:0005845	hemoglobin A2 measurement
EFO:0005849	serum lipase activity measurement
EFO:0005850	emphysema pattern measurement
EFO:0005851	height-adjusted body mass index
EFO:0005852	Heschl's gyrus morphology measurement
EFO:0005853	response to silica exposure
EFO:0005890	osteoarthritis biomarker measurement
EFO:0005918	osteoprotegerin measurement
EFO:0005919	recombination measurement
EFO:0005921	FEV change measurement
EFO:0005935	overweight body mass index status
EFO:0005936	underweight body mass index status
EFO:0005937	longitudinal BMI measurement
EFO:0005939	parental genotype effect measurement
EFO:0005940	psychotic symptoms
EFO:0005941	mammographic density measurement
EFO:0005943	response to bevacizumab
EFO:0005944	cumulative dose response to bevacizumab
EFO:0005949	antinuclear antibody measurement
EFO:0005951	sexual dimorphism
EFO:0006309	plasma plasminogen measurement
EFO:0006312	mitochondrial DNA measurement
EFO:0006316	infant expressive language ability
EFO:0006317	response to thiopurine
EFO:0006319	HIV viral set point measurement
EFO:0006320	antidepressant-induced side effect
EFO:0006321	antidepressant-induced dizziness
EFO:0006322	antidepressant-induced sexual dysfunction
EFO:0006323	antidepressant-induced visual impairment
EFO:0006326	response to bupropion
EFO:0006328	response to venlafaxine
EFO:0006329	response to citalopram
EFO:0006330	response to buspirone
EFO:0006331	selenium measurement
EFO:0006332	serum iron measurement
EFO:0006333	transferrin saturation measurement
EFO:0006334	total iron binding capacity
EFO:0006335	systolic blood pressure
EFO:0006336	diastolic blood pressure
EFO:0006337	response to allopurinol
EFO:0006340	mean arterial pressure
EFO:0006341	transferrin measurement
EFO:0006345	response to phenytoin
EFO:0006347	pulmonary artery enlargement
EFO:0006501	carotid plaque build
EFO:0006502	mammographic density percentage
EFO:0006503	dense area measurement
EFO:0006504	non-dense area measurement
EFO:0006506	hepatic lipid content measurement
EFO:0006507	nicotine glucuronidation measurement
EFO:0006508	cotinine glucuronidation measurement
EFO:0006512	angiographic measurement
EFO:0006514	Alzheimer's disease biomarker measurement
EFO:0006516	superior frontal gyrus grey matter volume measurement
EFO:0006517	interferon alpha measurement
EFO:0006519	MMR-related febrile seizures
EFO:0006520	carbon monoxide exhalation measurement
EFO:0006521	calcium intake measurement
EFO:0006522	asymmetrical dimethylarginine measurement
EFO:0006523	symmetrical dimethylarginine measurement
EFO:0006524	L-arginine measurement
EFO:0006525	cigarettes per day measurement
EFO:0006526	pack-years measurement
EFO:0006527	smoking status measurement
EFO:0006782	cups of coffee per day measurement
EFO:0006783	psychosocial stress measurement
EFO:0006784	body height at birth
EFO:0006785	infant body height
EFO:0006793	left inferior lateral ventricle volume measurement
EFO:0006794	cerebrospinal fluid biomarker measurement
EFO:0006795	serum VEGFR2 concentration measurement
EFO:0006796	very long-chain saturated fatty acid measurement
EFO:0006797	neurofibrillary tangles measurement
EFO:0006798	neuritic plaque measurement
EFO:0006799	Lewy body dementia measurement
EFO:0006800	vascular brain injury measurement
EFO:0006801	Alzheimer's disease neuropathologic change
EFO:0006802	response to red blood cell transfusion
EFO:0006804	alloimmunization
EFO:0006805	word list delayed recall measurement
EFO:0006806	paragraph delayed recall measurement
EFO:0006807	linoleic acid measurement
EFO:0006808	arachidonic acid measurement
EFO:0006809	docosapentaenoic acid measurement
EFO:0006810	oleic acid measurement
EFO:0006811	linolenic acid measurement
EFO:0006816	response to heparin
EFO:0006818	stricture
EFO:0006820	complicated disease course
EFO:0006821	trans fatty acid measurement
EFO:0006822	trans-16:1n-7 fatty acid measurement
EFO:0006823	total trans-18:1 fatty acid measurement
EFO:0006824	cis/trans-18:2 fatty acid measurement
EFO:0006825	trans/cis-18:2 fatty acid measurement
EFO:0006826	trans/trans-18:2 fatty acid measurement
EFO:0006828	plasma renin activity measurement
EFO:0006829	GFR change measurement
EFO:0006830	insulin metabolic clearance rate measurement
EFO:0006831	acute insulin response measurement
EFO:0006832	disposition index measurement
EFO:0006833	glucose effectiveness measurement
EFO:0006834	septic shock
EFO:0006836	rapid kidney function decline
EFO:0006864	breastfeeding duration
EFO:0006865	urgency urinary incontinence
EFO:0006866	electrodermal activity measurement
EFO:0006867	skin conductance level
EFO:0006868	skin conductance response amplitude
EFO:0006869	skin conductance response frequency
EFO:0006870	alpha wave measurement
EFO:0006871	beta wave measurement
EFO:0006872	delta wave measurement
EFO:0006873	theta wave measurement
EFO:0006874	antisaccade response measurement
EFO:0006875	acoustic startle blink response measurement
EFO:0006876	seasonality measurement
EFO:0006882	suicide behaviour measurement
EFO:0006883	alpha peak frequency measurement
EFO:0006896	glucose homeostasis measurement
EFO:0006897	airway responsiveness measurement
EFO:0006898	airway wall thickness measurement
EFO:0006899	PCSK9 protein measurement
EFO:0006900	endothelial growth factor measurement
EFO:0006902	angiopoietin-2 receptor measurement
EFO:0006903	hepatocyte growth factor measurement
EFO:0006904	response to efavirenz
EFO:0006905	response to abacavir
EFO:0006906	virologic response measurement
EFO:0006913	prefrontal cortex cytoarchtiectural measurement
EFO:0006916	response to dalcetrapib
EFO:0006917	spontaneous preterm birth
EFO:0006918	female fertility
EFO:0006919	cardiovascular event measurement
EFO:0006920	BNP measurement
EFO:0006921	birth measurement
EFO:0006922	delivery measurement
EFO:0006923	fertility measurement
EFO:0006925	lipoprotein A measurement
EFO:0006929	IgG index
EFO:0006930	brain volume measurement
EFO:0006931	nucleus accumbens volume
EFO:0006932	putamen volume
EFO:0006933	pallidum volume
EFO:0006934	amygdala volume
EFO:0006937	optic disc area measurement
EFO:0006939	cup-to-disc ratio measurement
EFO:0006940	optic cup area measurement
EFO:0006941	grip strength measurement
EFO:0006942	facial pigmentation measurement
EFO:0006944	systolic blood pressure change measurement
EFO:0006945	diastolic blood pressure change measurement
EFO:0006946	behavioural disinhibition measurement
EFO:0006947	red wine liking measurement
EFO:0006948	white wine liking measurement
EFO:0006950	response to vincristine
EFO:0006952	cytotoxicity measurement
EFO:0006953	family history of lung cancer
EFO:0006955	ADAMTS13 activity measurement
EFO:0006957	X12063 measurement
EFO:0006958	mannose measurement
EFO:0006959	gene methylation measurement
EFO:0006993	response to mineral dust exposure
EFO:0006995	response to diisocyanate
EFO:0006996	response to homoharringtonine
EFO:0006999	cancer aggressiveness measurement
EFO:0007000	Gleason score measurement
EFO:0007001	dehydroepiandrosterone sulphate measurement
EFO:0007002	luteinizing hormone measurement
EFO:0007004	progesterone measurement
EFO:0007006	depressive symptom measurement
EFO:0007007	ticagrelor measurement
EFO:0007009	skin pigmentation measurement
EFO:0007010	drug use measurement
EFO:0007011	SSRI use measurement
EFO:0007013	aspirin use measurement
EFO:0007014	3-hydroxypropylmercapturic acid measurement
EFO:0007015	3-hydroxy-1-methylpropylmercapturic acid measurement
EFO:0007016	food allergy measurement
EFO:0007017	peanut allergy measurement
EFO:0007018	egg allergy measurement
EFO:0007019	milk allergy measurement
EFO:0007020	AR-C124910XX measurement
EFO:0007021	Lewy body measurement
EFO:0007034	seropositivity measurement
EFO:0007035	Chlamydia pneumoniae seropositivity
EFO:0007037	cytomegalovirus seropositivity
EFO:0007038	Influenza A seropositivity
EFO:0007040	blood lead measurement
EFO:0007041	obese body mass index status
EFO:0007042	polychlorinated biphenyls measurement
EFO:0007043	response to transplant
EFO:0007047	Toxoplasma gondii seropositivity
EFO:0007050	HSV1 seropositivity
EFO:0007051	vein graft stenosis
EFO:0007054	microsatellite instability measurement
EFO:0007117	carotid artery intima media thickness
EFO:0007118	sitting height ratio
EFO:0007119	Sasang constitutional medicine type
EFO:0007123	So-Eum
EFO:0007124	salivary gland lesion
EFO:0007125	lachrymal gland lesion
EFO:0007585	Cannabis use
EFO:0007586	Cannabis use initiation
EFO:0007591	bone mineral accretion measurement
EFO:0007592	response to bleomycin
EFO:0007593	chromatid break measurement
EFO:0007612	response to montelukast
EFO:0007613	response to endocrine therapy
EFO:0007614	asthma exacerbation measurement
EFO:0007615	thrombus formation measurement
EFO:0007619	suicide ideation measurement
EFO:0007620	volumetric bone mineral density
EFO:0007621	bone mineral content measurement
EFO:0007622	sRAGE measurement
EFO:0007623	suicide behaviour
EFO:0007624	suicide
EFO:0007626	emphysema imaging measurement
EFO:0007627	airway imaging measurement
EFO:0007628	gas trapping measurement
EFO:0007629	hemoglobin A1 measurement
EFO:0007630	glycerophospholipid measurement
EFO:0007633	response to thioamide
EFO:0007635	concentration dose ratio
EFO:0007636	attention function measurement
EFO:0007638	Yu-Zhi constitution type
EFO:0007645	longitudinal alcohol consumption measurement
EFO:0007646	amyloid plaque accumulation rate
EFO:0007650	soluble interleukin-2 receptor subunit alpha measurement
EFO:0007654	clinical and behavioural ideal cardiovascular health
EFO:0007656	plasma clusterin measurement
EFO:0007657	cerebrospinal fluid clusterin measurement
EFO:0007658	carrier status
EFO:0007659	APOE carrier status
EFO:0007660	neuroticism measurement
EFO:0007661	response to lamotrigine
EFO:0007662	response to triptolide
EFO:0007663	childhood aggressive behaviour measurement
EFO:0007664	outer ear morphology trait
EFO:0007665	ear protrusion
EFO:0007666	lobe size
EFO:0007667	lobe attachment
EFO:0007668	tragus size
EFO:0007669	antitragus size
EFO:0007670	helix rolling
EFO:0007671	folding of antihelix
EFO:0007673	superior crus of antihelix expression
EFO:0007675	metastasis measurement
EFO:0007676	response to zileuton
EFO:0007677	LDL peak particle diameter measurement
EFO:0007678	total fat intake measurement
EFO:0007679	oppositional defiant disorder measurement
EFO:0007680	gait measurement
EFO:0007681	triglyceride change measurement
EFO:0007682	response to cetuximab
EFO:0007683	response to CAPOX-B
EFO:0007684	response to high fat food intake
EFO:0007685	trichloroethylene-induced hypersensitivity
EFO:0007699	eye movement measurement
EFO:0007700	exploratory eye movement measurement
EFO:0007701	spine bone mineral density
EFO:0007702	hip bone mineral density
EFO:0007704	depressive episode measurement
EFO:0007705	manic episode measurement
EFO:0007706	manic or hypomanic episode
EFO:0007707	cerebral amyloid deposition measurement
EFO:0007708	t-tau:beta-amyloid 1-42 ratio measurement
EFO:0007709	p-tau:beta-amyloid 1-42 ratio measurement
EFO:0007710	cognitive decline measurement
EFO:0007737	BMI-adjusted adiponectin measurement
EFO:0007738	cingulate cortex measurement
EFO:0007739	left superior temporal gyrus thickness measurement
EFO:0007741	R wave amplitude
EFO:0007742	QRS amplitude
EFO:0007743	influenza A severity measurement
EFO:0007744	lung disease severity measurement
EFO:0007745	lactate measurement
EFO:0007746	white matter lesion progression measurement
EFO:0007747	postburn hypertrophic scarring severity measurement
EFO:0007753	seasonal gut microbiome measurement
EFO:0007755	atopic march
EFO:0007757	persistent Staphylococcus aureus carrier status
EFO:0007758	intermittent Staphylococcus aureus carrier status
EFO:0007759	alpha-linolenic acid measurement
EFO:0007760	eicosapentaenoic acid measurement
EFO:0007761	docosahexaenoic acid measurement
EFO:0007762	gamma-linolenic acid measurement
EFO:0007763	dihomo-gamma-linolenic acid measurement
EFO:0007764	delta-5 desaturase measurement
EFO:0007765	delta-6 desaturase measurement
EFO:0007766	response to beta blocker
EFO:0007767	response to calcium channel blocker
EFO:0007768	response to exercise
EFO:0007769	thoracic-to-hip circumference ratio measurement
EFO:0007770	post-operative fentanyl consumption measurement
EFO:0007772	calcaneal bone quantitative ultrasound measurement
EFO:0007773	cutaneous psoriasis measurement
EFO:0007774	thrombomodulin measurement
EFO:0007775	thrombin-antithrombin complex measurement
EFO:0007776	prothrombin fragments F1+2 measurement
EFO:0007777	base metabolic rate measurement
EFO:0007778	urinary albumin to creatinine ratio
EFO:0007780	periodontal measurement
EFO:0007781	stressful life event measurement
EFO:0007785	femoral neck bone mineral density
EFO:0007786	menstrual cycle measurement
EFO:0007787	plasma betaine measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007789	BMI-adjusted waist circumference
EFO:0007790	Epstein Barr virus nuclear antigen 1 IgG measurement
EFO:0007791	rheumatoid factor seropositivity measurement
EFO:0007792	antipsychotic drug use measurement
EFO:0007793	BMI-adjusted leptin measurement
EFO:0007794	nicotine metabolite ratio
EFO:0007795	anxiety disorder measurement
EFO:0007796	parental longevity
EFO:0007797	language measurement
EFO:0007798	linguistic error measurement
EFO:0007799	syntactic complexity measurement
EFO:0007800	body fat percentage
EFO:0007801	lycopene measurement
EFO:0007802	obsessive-compulsive symptom measurement
EFO:0007803	emotional symptom measurement
EFO:0007804	LDL cholesterol change measurement
EFO:0007805	HDL cholesterol change measurement
EFO:0007806	total cholesterol change measurement
EFO:0007807	erythrocyte cadmium measurement
EFO:0007808	response to bortezomib
EFO:0007809	response to flupirtine
EFO:0007812	Plasmodium falciparum antigen IgG measurement
EFO:0007813	cotinine measurement
EFO:0007814	refractive error measurement
EFO:0007817	sleep apnea measurement
EFO:0007818	athletic endurance measurement
EFO:0007819	advanced glycation end-product measurement
EFO:0007820	cognitive behavioural therapy
EFO:0007821	hair morphology measurement
EFO:0007822	hair colour measurement
EFO:0007823	facial hair thickness measurement
EFO:0007824	hair shape measurement
EFO:0007825	balding measurement
EFO:0007826	aggressive behaviour measurement
EFO:0007827	nighttime rest measurement
EFO:0007828	daytime rest measurement
EFO:0007829	eating behaviour
EFO:0007830	food addiction measurement
EFO:0007835	alcohol dependence measurement
EFO:0007836	coenzyme Q10 measurement
EFO:0007837	anti-citrullinated protein antibody seropositivity
EFO:0007838	response to anti-thyroid drug
EFO:0007840	pesticide exposure measurement
EFO:0007841	facial morphology measurement
EFO:0007842	chin morphology measurement
EFO:0007843	nose morphology measurement
EFO:0007844	forehead morphology measurement
EFO:0007845	lip morphology measurement
EFO:0007847	cheekbone morphology measurement
EFO:0007848	apolipoprotein A-IV measurement
EFO:0007849	functional brain measurement
EFO:0007850	solar lentigines measurement
EFO:0007852	thiopurine methyltransferase activity measurement
EFO:0007853	response to mercaptopurine
EFO:0007855	facial width measurement
EFO:0007856	facial height measurement
EFO:0007857	facial depth measurement
EFO:0007858	eye morphology measurement
EFO:0007859	response to interferon
EFO:0007860	ADHD symptom measurement
EFO:0007863	illness severity status
EFO:0007864	sulfate measurement
EFO:0007865	loneliness measurement
EFO:0007866	response to rifampicin
EFO:0007869	wellbeing measurement
EFO:0007871	response to escitalopram
EFO:0007872	caffeine metabolite measurement
EFO:0007873	cartilage thickness measurement
EFO:0007874	gut microbiome measurement
EFO:0007875	excessive daytime sleepiness measurement
EFO:0007876	insomnia measurement
EFO:0007877	risky sexual behaviour measurement
EFO:0007878	alcohol consumption measurement
EFO:0007881	job-related exhaustion measurement
EFO:0007883	taxonomic microbiome measurement
EFO:0007885	JT interval
EFO:0007886	DDT metabolite measurement
EFO:0007888	age at voice drop
EFO:0007889	dysmenorrheic pain measurement
EFO:0007892	donor genotype effect measurement
EFO:0007893	alpha-carotene measurement
EFO:0007901	hepcidin:ferritin ratio
EFO:0007902	hepcidin:transferrin saturation ratio
EFO:0007903	magnesium:calcium ratio
EFO:0007904	susceptibility to childhood ear infection measurement
EFO:0007905	joint hypermobility measurement
EFO:0007906	synophrys measurement
EFO:0007907	methadone dose measurement
EFO:0007908	traffic air pollution measurement
EFO:0007909	CHGA cleavage product measurement
EFO:0007910	CHGB cleavage product measurement
EFO:0007912	conscientiousness measurement
EFO:0007914	openness measurement
EFO:0007916	response to tricyclic antidepressant
EFO:0007917	response to tetracyclic antidepressant
EFO:0007918	response to anti-tuberculosis drug
EFO:0007919	response to diclofenac
EFO:0007920	response to fluoroquinolones
EFO:0007921	response to nitrofurantoin
EFO:0007922	response to sulfonylurea
EFO:0007924	tonsillectomy risk measurement
EFO:0007925	response to paliperidone
EFO:0007927	schizophrenia symptom severity measurement
EFO:0007928	ventricular rate measurement
EFO:0007929	triglyceride:HDL cholesterol ratio
EFO:0007930	LDL cholesterol:HDL cholesterol ratio
EFO:0007931	non-HDL cholesterol:HDL cholesterol ratio
EFO:0007932	multiple keratinocyte carcinoma susceptibility measurement
EFO:0007933	radius bone mineral density
EFO:0007934	creatinine clearance measurement
EFO:0007936	disease prognosis measurement
EFO:0007937	blood protein measurement
EFO:0007938	coronary atheroscleroris measurement
EFO:0007942	hip osteoarthritis symptom severity measurement
EFO:0007943	response to platinum-based neoadjuvant chemotherapy
EFO:0007944	allergen exposure measurement
EFO:0007946	tiredness measurement
EFO:0007947	serum galactose-deficient IgA1 measurement
EFO:0007948	HIV-associated neurocognitive disorder
EFO:0007955	mouth morphology measurement
EFO:0007956	monocyte:lymphocyte ratio
EFO:0007957	urinary 1
EFO:0007959	fetal genotype effect measurement
EFO:0007960	organochlorine pesticide measurement
EFO:0007961	polybrominated biphenyl measurement
EFO:0007962	polybrominated diphenyl ether measurement
EFO:0007963	abnormal paneth cell measurement
EFO:0007964	gestational serum measurement
EFO:0007965	response to combination chemotherapy
EFO:0007966	clopidogrel metabolite measurement
EFO:0007967	blood osmolality measurement
EFO:0007970	estrone measurement
EFO:0007971	estrone conjugate measurement
EFO:0007972	androstenedione measurement
EFO:0007973	palmitoleic acid measurement
EFO:0007974	vaccenic acid measurement
EFO:0007975	gondoic acid measurement
EFO:0007978	red blood cell density measurement
EFO:0007980	cerebral blood flow measurement
EFO:0007981	response to thiazide
EFO:0007982	mild neurocognitive disorder
EFO:0007984	platelet component distribution width
EFO:0007985	platelet crit
EFO:0007986	reticulocyte count
EFO:0007987	granulocyte count
EFO:0007988	myeloid white cell count
EFO:0007989	monocyte percentage of leukocytes
EFO:0007990	neutrophil percentage of leukocytes
EFO:0007991	eosinophil percentage of leukocytes
EFO:0007992	basophil percentage of leukocytes
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007994	neutrophil percentage of granulocytes
EFO:0007995	basophil percentage of granulocytes
EFO:0007996	eosinophil percentage of granulocytes
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0007998	cognitive impairment measurement
EFO:0007999	lower body strength measurement
EFO:0008000	peak insulin response measurement
EFO:0008001	insulin secretion rate measurement
EFO:0008002	physical activity measurement
EFO:0008003	heart rate variability measurement
EFO:0008004	resting metabolic rate measurement
EFO:0008005	energy expenditure measurement
EFO:0008006	skin aging measurement
EFO:0008007	age at assessment
EFO:0008008	lower urinary tract symptom
EFO:0008009	1
EFO:0008011	a disintegrin and metalloproteinase with thrombospondin motifs 13
EFO:0008012	Abelson tyrosine-protein kinase 2 measurement
EFO:0008013	acid sphingomyelinase-like phosphodiesterase 3a measurement
EFO:0008014	ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 measurement
EFO:0008015	afamin measurement
EFO:0008016	Agouti-related protein measurement
EFO:0008017	alcohol dehydrogenase [NADP+] measurement
EFO:0008020	alpha-2-HS-glycoprotein measurement
EFO:0008021	alpha-2-macroglobulin receptor-associated protein measurement
EFO:0008022	angiogenin measurement
EFO:0008023	angiopoietin-1 receptor
EFO:0008024	angiostatin measurement
EFO:0008027	annexin A2 measurement
EFO:0008029	apolipoprotein E measurement
EFO:0008030	arylsulfatase B measurement
EFO:0008031	aspartate aminotransferase
EFO:0008032	basal cell adhesion molecule measurement
EFO:0008033	beta-Ala-His dipeptidase measurement
EFO:0008034	beta-endorphin measurement
EFO:0008035	beta-nerve growth factor measurement
EFO:0008036	BMI-adjusted fasting blood glucose measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0008040	breast cancer anti-estrogen resistance protein 3 measurement
EFO:0008041	C-C motif chemokine 1 measurement
EFO:0008042	C-C motif chemokine 14 measurement
EFO:0008043	C-C motif chemokine 15 measurement
EFO:0008044	C-C motif chemokine 16 measurement
EFO:0008045	C-C motif chemokine 17 measurement
EFO:0008046	C-C motif chemokine 18 measurement
EFO:0008048	C-C motif chemokine 21 measurement
EFO:0008049	C-C motif chemokine 23 measurement
EFO:0008050	C-C motif chemokine 25 measurement
EFO:0008051	C-C motif chemokine 3 measurement
EFO:0008053	C-C motif chemokine 5 measurement
EFO:0008054	C-C motif chemokine 7 measurement
EFO:0008056	C-X-C motif chemokine 10 measurement
EFO:0008057	C-X-C motif chemokine 11 measurement
EFO:0008058	C-X-C motif chemokine 5 measurement
EFO:0008059	C-X-C motif chemokine 6 measurement
EFO:0008060	cadherin-5 measurement
EFO:0008061	calcineurin measurement
EFO:0008062	calcium/calmodulin-dependent protein kinase type 1 measurement
EFO:0008063	calcium/calmodulin-dependent protein kinase type 1D measurement
EFO:0008065	calpastatin measurement
EFO:0008068	carbonic anhydrase 6 measurement
EFO:0008069	carboxypeptidase B2 measurement
EFO:0008070	caspase-3 measurement
EFO:0008071	catalase measurement
EFO:0008072	cathepsin B measurement
EFO:0008073	cathepsin S measurement
EFO:0008074	cathepsin Z measurement
EFO:0008075	cation-independent mannose-6-phosphate receptor measurement
EFO:0008076	CD109 antigen measurement
EFO:0008079	cell adhesion molecule-related/down-regulated by oncogenes measurement
EFO:0008081	cGMP-specific 3'
EFO:0008082	chemokine (C-C motif) ligand 27 measurement
EFO:0008084	chitotriosidase-1 measurement
EFO:0008085	Ck-beta-8-1 measurement
EFO:0008086	CMRF35-like molecule 6 measurement
EFO:0008087	coagulation factor V measurement
EFO:0008088	collectin-11 measurement
EFO:0008089	complement C1q subcomponent measurement
EFO:0008090	complement C1r subcomponent measurement
EFO:0008091	complement C1s subcomponent measurement
EFO:0008092	complement C4b measurement
EFO:0008093	complement component C7 measurement
EFO:0008094	complement component C8 measurement
EFO:0008096	complement factor B measurement
EFO:0008097	complement factor H measurement
EFO:0008098	complement factor H-related protein 5 measurement
EFO:0008099	complement factor I measurement
EFO:0008100	contactin-2 measurement
EFO:0008101	contactin-5 measurement
EFO:0008102	copine-1 measurement
EFO:0008106	cystatin-SN measurement
EFO:0008107	death-associated protein kinase 2 measurement
EFO:0008108	dermatopontin measurement
EFO:0008110	Dickkopf-related protein 4 measurement
EFO:0008111	diet measurement
EFO:0008112	dual specificity mitogen-activated protein kinase kinase 2 measurement
EFO:0008113	dual specificity mitogen-activated protein kinase kinase 4 measurement
EFO:0008114	dynein light chain roadblock-type 1 measurement
EFO:0008115	ectonucleoside triphosphate diphosphohydrolase 5 measurement
EFO:0008116	EGF-like module-containing mucin-like hormone receptor-like 2 measurement
EFO:0008118	endoglin measurement
EFO:0008119	endoplasmic reticulum aminopeptidase 1 measurement
EFO:0008120	endothelial cell-selective adhesion molecule measurement
EFO:0008122	eotaxin measurement
EFO:0008123	ephrin type-A receptor 1 measurement
EFO:0008124	ephrin type-B receptor 2 measurement
EFO:0008126	extracellular matrix protein 1 measurement
EFO:0008127	Fc receptor-like protein 3 measurement
EFO:0008128	fetuin-B measurement
EFO:0008129	fibroblast growth factor 2 measurement
EFO:0008130	fibroblast growth factor basic measurement
EFO:0008135	ficolin-2 measurement
EFO:0008136	galactoside 34-L-fucosyltransferase measurement
EFO:0008137	galectin-3 measurement
EFO:0008139	glypican-5 measurement
EFO:0008140	gp41 C34 peptide
EFO:0008142	granulocyte colony-stimulating factor measurement
EFO:0008145	granzyme A measurement
EFO:0008146	growth-regulated alpha protein measurement
EFO:0008148	hemojuvelin measurement
EFO:0008149	hemopexin measurement
EFO:0008150	heparin cofactor 2 measurement
EFO:0008151	hepatitis A virus cellular receptor 2 measurement
EFO:0008152	hepatocyte growth factor activator measurement
EFO:0008154	hepatocyte growth factor-like protein measurement
EFO:0008155	histidine-rich glycoprotein measurement
EFO:0008156	human Chorionic Gonadotropin measurement
EFO:0008158	inosine-5'-monophosphate dehydrogenase 1 measurement
EFO:0008159	inosine-5'-monophosphate dehydrogenase 2 measurement
EFO:0008160	insulin receptor measurement
EFO:0008161	insulin-like growth factor-binding protein 7 measurement
EFO:0008162	integrin alpha-I: beta-1 complex measurement
EFO:0008164	intercellular adhesion molecule 5 measurement
EFO:0008165	interferon gamma measurement
EFO:0008167	interleukin 1 Receptor accessory protein measurement
EFO:0008168	interleukin 1 receptor-like 1 measurement
EFO:0008169	interleukin 1 receptor-like 2 measurement
EFO:0008170	interleukin 12 receptor subunit beta-1 measurement
EFO:0008171	interleukin 13 measurement
EFO:0008172	interleukin 15 receptor subunit alpha measurement
EFO:0008173	interleukin 16 measurement
EFO:0008174	interleukin 17 measurement
EFO:0008175	interleukin 17 receptor A measurement
EFO:0008176	interleukin 17 receptor B measurement
EFO:0008177	interleukin 17 receptor D measurement
EFO:0008178	interleukin 18 receptor 1 measurement
EFO:0008180	interleukin 19 measurement
EFO:0008181	interleukin 23 receptor measurement
EFO:0008182	interleukin 25 measurement
EFO:0008183	interleukin 27 receptor subunit alpha measurement
EFO:0008184	interleukin 4 measurement
EFO:0008185	interleukin 5 measurement
EFO:0008186	interleukin 5 receptor subunit alpha measurement
EFO:0008187	interleukin 6 receptor subunit alpha measurement
EFO:0008188	interleukin 6 receptor subunit beta measurement
EFO:0008189	interleukin 7 measurement
EFO:0008192	interleukin 9 measurement
EFO:0008193	interstitial collagenase measurement
EFO:0008195	kallikrein-7 measurement
EFO:0008197	killer cell immunoglobulin-like receptor 2DL4 measurement
EFO:0008198	kininogen-1 measurement
EFO:0008199	Kunitz-type protease inhibitor 1 measurement
EFO:0008201	kynureninase measurement
EFO:0008202	L-Selectin measurement
EFO:0008203	lactadherin measurement
EFO:0008204	left ventricular diastolic function measurement
EFO:0008205	left ventricular structural measurement
EFO:0008206	left ventricular systolic function measurement
EFO:0008207	leucine carboxyl methyltransferase 1 measurement
EFO:0008208	leukocyte immunoglobulin-like receptor subfamily B member 1 measurement
EFO:0008210	low affinity immunoglobulin epsilon Fc receptor measurement
EFO:0008211	low affinity immunoglobulin gamma Fc region receptor II-a/b measurement
EFO:0008213	low molecular weight phosphotyrosine protein phosphatase measurement
EFO:0008215	lysosomal protective protein measurement
EFO:0008217	macrophage colony stimulating factor measurement
EFO:0008218	macrophage inflammatory protein 1a measurement
EFO:0008219	macrophage inflammatory protein 1b measurement
EFO:0008220	macrophage metalloelastase measurement
EFO:0008221	macrophage migration inhibitory factor measurement
EFO:0008222	macrophage scavenger receptor types I and II measurement
EFO:0008224	mannose-binding protein C measurement
EFO:0008225	MAP kinase-activated protein kinase 2 measurement
EFO:0008226	MAP kinase-activated protein kinase 3 measurement
EFO:0008229	melanoma-derived growth regulatory protein measurement
EFO:0008230	mental development measurement
EFO:0008231	metalloproteinase inhibitor 3 measurement
EFO:0008232	methionine aminopeptidase 2 measurement
EFO:0008233	MHC class I polypeptide-related sequence A measurement
EFO:0008234	MHC class I polypeptide-related sequence B measurement
EFO:0008235	monocyte chemotactic protein 3 measurement
EFO:0008236	monokine induced by gamma interferon measurement
EFO:0008237	motor development measurement
EFO:0008238	myeloid cell surface antigen CD33 measurement
EFO:0008240	N-acylethanolamine-hydrolyzing acid amidase measurement
EFO:0008241	NAD-dependent protein deacetylase sirtuin-2 measurement
EFO:0008242	NADPH--cytochrome P450 reductase measurement
EFO:0008243	natural cytotoxicity triggering receptor 3 measurement
EFO:0008244	neurexophilin-1 measurement
EFO:0008246	neurogenic locus notch homolog protein 1 measurement
EFO:0008248	neutrophil collagenase measurement
EFO:0008249	nidogen-1 measurement
EFO:0008250	NKG2-D type II integral membrane protein measurement
EFO:0008251	non-receptor tyrosine-protein kinase TYK2 measurement
EFO:0008252	OCIA domain-containing protein 1 measurement
EFO:0008254	P-Selectin measurement
EFO:0008255	particulate matter air pollution measurement
EFO:0008256	peptidyl-prolyl cis-trans isomerase D measurement
EFO:0008257	peptidyl-prolyl cis-trans isomerase E measurement
EFO:0008258	persulfide dioxygenase ETHE1
EFO:0008259	phospholipase A2
EFO:0008260	plasma kallikrein measurement
EFO:0008261	plasma protease C1 inhibitor measurement
EFO:0008263	platelet glycoprotein VI measurement
EFO:0008264	platelet-derived growth factor BB measurement
EFO:0008265	platelet-derived growth factor receptor beta measurement
EFO:0008266	plexin-C1 measurement
EFO:0008268	programmed cell death 1 ligand 2 measurement
EFO:0008269	properdin measurement
EFO:0008270	proprotein convertase subtilisin/kexin type 7 measurement
EFO:0008272	proto-oncogene tyrosine-protein kinase receptor Ret measurement
EFO:0008275	S-formylglutathione hydrolase measurement
EFO:0008276	scavenger receptor class F member 1 measurement
EFO:0008277	Secreted frizzled-related protein 3 measurement
EFO:0008278	semaphorin-3A measurement
EFO:0008279	semaphorin-3E measurement
EFO:0008280	serine protease 27 measurement
EFO:0008281	serine/threonine-protein kinase 17B measurement
EFO:0008282	serum amyloid A-1 protein measurement
EFO:0008284	sialic acid-binding Ig-like lectin 14 measurement
EFO:0008285	sialic acid-binding Ig-like lectin 6 measurement
EFO:0008286	sialic acid-binding Ig-like lectin 9 measurement
EFO:0008287	SLAM family member 7 measurement
EFO:0008289	SPARC-like protein 1 measurement
EFO:0008290	spondin-1 measurement
EFO:0008291	stem Cell Factor measurement
EFO:0008292	stem Cell Growth Factor beta measurement
EFO:0008293	stromal cell-derived factor 1 alpha measurement
EFO:0008294	superoxide dismutase [Mn]
EFO:0008295	T-lymphocyte surface antigen Ly-9 measurement
EFO:0008296	tenascin measurement
EFO:0008297	teratocarcinoma-derived growth factor 1 measurement
EFO:0008298	thioredoxin domain-containing protein 12 measurement
EFO:0008300	TNF-related apoptosis-inducing ligand measurement
EFO:0008301	toll-like receptor 4:Lymphocyte antigen 96 complex measurement
EFO:0008302	transforming growth factor-beta-induced protein ig-h3 measurement
EFO:0008303	transmembrane glycoprotein NMB measurement
EFO:0008304	trefoil factor 3 measurement
EFO:0008307	tuberculin skin test reactivity measurement
EFO:0008308	tumor necrosis factor beta measurement
EFO:0008309	tumor necrosis factor receptor superfamily member 19L measurement
EFO:0008310	tumor necrosis factor receptor superfamily member EDAR measurement
EFO:0008311	tumor necrosis factor-inducible gene 6 protein measurement
EFO:0008312	tyrosine-protein kinase receptor Tie-1
EFO:0008313	UMP-CMP kinase measurement
EFO:0008314	vascular endothelial growth factor receptor 2 measurement
EFO:0008315	vascular endothelial growth factor receptor 3 measurement
EFO:0008317	very low density lipoprotein cholesterol measurement
EFO:0008318	vitamin K-dependent protein C measurement
EFO:0008319	WAP
EFO:0008321	WNT1-inducible-signaling pathway protein 1 measurement
EFO:0008322	decreased susceptibility to bacterial infection
EFO:0008324	response to sulfasalazine
EFO:0008326	a disintegrin and metalloproteinase with thrombospondin motifs 5 measurement
EFO:0008328	chronotype measurement
EFO:0008329	facial emotion recognition measurement
EFO:0008330	fear of pain measurement
EFO:0008331	interleukin 2 measurement
EFO:0008332	interleukin 2 receptor antagonist measurement
EFO:0008336	disease progression measurement
EFO:0008337	psychosis predisposition measurement
EFO:0008338	fear of severe pain measurement
EFO:0008339	fear of medical pain measurement
EFO:0008340	fear of minor pain measurement
EFO:0008341	snoring measurement
EFO:0008342	parental emotion expression measurmement
EFO:0008343	sex interaction measurement
EFO:0008344	response to placebo
EFO:0008347	response to trastuzumab
EFO:0008348	response to ranibizumab
EFO:0008350	alpha-linoleic acid measurement
EFO:0008353	cellular adhesion molecule measurement
EFO:0008354	cognitive function measurement
EFO:0008355	dietary heme iron intake measurement
EFO:0008358	dorsolateral prefrontal cortex functional measurement
EFO:0008361	environmental tobacco smoke exposure measurement
EFO:0008364	generational effect measurement
EFO:0008365	heart amyloid deposition measurement
EFO:0008366	IgG isotype profile measurement
EFO:0008367	infant cerebrospinal fluid volume measurement
EFO:0008368	infant grey matter volume measurement
EFO:0008369	infant intracranial volume measurement
EFO:0008370	infant white matter volume measurement
EFO:0008371	kidney amyloid deposition measurement
EFO:0008372	laterality measurement
EFO:0008375	macula measurement
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0008379	P wave terminal force measurement
EFO:0008380	perceived unattractiveness to mosquitos measurement
EFO:0008381	total cortical area measurement
EFO:0008387	caudate nucleus measurement
EFO:0008388	gamma wave measurement
EFO:0008390	prothrombin time measurement
EFO:0008391	erythropoetin measurement
EFO:0008392	triiodothyronine measurement
EFO:0008393	reaction time measurement
EFO:0008395	response to darapladib
EFO:0008396	response to reward
EFO:0008400	susceptibility to chickenpox measurement
EFO:0008401	susceptibility to shingles measurement
EFO:0008402	susceptibility to cold sores measurement
EFO:0008403	susceptibility to mononucleosis measurement
EFO:0008404	susceptibility to mumps measurement
EFO:0008405	susceptibility to hepatitis B infection measurement
EFO:0008406	susceptibility to plantar warts measurement
EFO:0008407	susceptibility to Mycobacterium tuberculosis infection measurement
EFO:0008408	susceptibility to strep throat measurement
EFO:0008409	susceptibility to scarlet fever measurement
EFO:0008410	susceptibility to pneumonia measurement
EFO:0008411	susceptibility to bacterial meningitis measurement
EFO:0008412	susceptibility to vaginal yeast infection measurement
EFO:0008413	susceptibility to urinary tract infection measurement
EFO:0008414	susceptibility to measles measurement
EFO:0008415	susceptibility to hepatitis A infection measurement
EFO:0008416	susceptibility to rheumatic fever measurement
EFO:0008417	susceptibility to common cold measurement
EFO:0008418	susceptibility to rubella infection measurement
EFO:0008419	susceptibility to chronic sinus infection measurement
EFO:0008420	parietal cortex measurement
EFO:0008421	non-alcoholic fatty liver disease severity measurement
EFO:0008423	IgG monogalactosylation measurement
EFO:0008424	IgG digalactosylation measurement
EFO:0008425	IgG galactosylation measurement
EFO:0008426	IgG bisecting N-acetyl glucosamine measurement
EFO:0008427	IgG fucosylation measurement
EFO:0008428	IgG sialylation measurement
EFO:0008429	IgG disialylation measurement
EFO:0008430	IgG monosialylation measurement
EFO:0008431	maximal voluntary ventilation
EFO:0008432	lipoprotein-associated phospholipase A(2) change measurement
EFO:0008433	pursuit maintenance gain measurement
EFO:0008434	initial pursuit acceleration
EFO:0008449	magnesium:creatinine ratio measurement
EFO:0008455	sleep apnea measurement during REM sleep
EFO:0008457	cannabis dependence measurement
EFO:0008458	tacrolimus measurement
EFO:0008460	colorectal health
EFO:0008462	pregnancy induced alloimmunization
EFO:0008463	glucagon measurement
EFO:0008464	glucose-dependent insulinotropic peptide measurement
EFO:0008465	glucagon-like peptide-1 measurement
EFO:0008466	matrix metalloproteinase 8 measurement
EFO:0008467	behavioural inhibitory control measurement
EFO:0008468	midregional pro atrial natriuretic peptide measurement
EFO:0008469	B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio
EFO:0008470	dietary potassium intake measurement
EFO:0008473	insulin response measurement
EFO:0008474	spine bone mineral density change measurement
EFO:0008475	mood instability measurement
EFO:0008476	delayed reward discounting measurement
EFO:0008483	response to trauma exposure
EFO:0008484	response to carbamazepine
EFO:0008486	male homosexuality
EFO:0008487	lateral ventricle volume measurement
EFO:0008529	kynurenine measurement
EFO:0008530	kynurenine:tryptophan ratio
EFO:0008532	clinically amyopathic dermatomyositis
EFO:0008534	tryptophan measurement
EFO:0008535	post-traumatic stress disorder symptom measurement
EFO:0008536	anti-centromere-antibody-positive systemic scleroderma
EFO:0008537	anti-topoisomerase-I-antibody-positive systemic scleroderma
EFO:0008538	helping behavior measurement
EFO:0008539	vitamin D dietary intake measurement
EFO:0008541	response to opioid
EFO:0008543	c3d:C3 ratio
EFO:0008544	analgesia requirement measurement
EFO:0008578	sperm motility measurement
EFO:0008579	risk-taking behaviour
EFO:0008580	response to taxane
EFO:0008582	thrombin activatable fibrinolysis inhibitor activation peptide measurement
EFO:0008589	esterified cholesterol measurement
EFO:0008591	free cholesterol measurement
EFO:0008592	high density lipoprotein particle size measurement
EFO:0009010	HSV2 virologic severity measurement
EFO:0009087	non-typhoidal Salmonella bacteremia
EFO:0009092	breast milk measurement
EFO:0009094	idiopathic dilated cardiomyopathy
EFO:0009101	age at first birth measurement
EFO:0009103	theory of mind measurement
EFO:0009105	high altitude adaptation
EFO:0009113	alcohol exposure measurement
EFO:0009116	vitamin supplement exposure measurement
EFO:0009131	response to polyunsaturated fatty acid supplementation
EFO:0009132	cholesterol efflux capacity measurement
EFO:0009133	cholesteryl ester transfer protein measurement
EFO:0009134	trimethyllysine measurement
EFO:0009175	response to synacthen
EFO:0009176	adrenal suppression measurement
EFO:0009178	neurofilament light chain measurement
EFO:0009179	beta-secretase 1 measurement
EFO:0009180	rosacea severity measurement
EFO:0009181	growth differentiation factor 15 measurement
EFO:0009183	empathy measurement
EFO:0009184	heart rate response to exercise
EFO:0009185	heart rate response to recovery post exercise
EFO:0009260	non-melanoma skin carcinoma
EFO:0009261	response to aripiprazole
EFO:0009262	nicotine dependence symptom count
EFO:0009263	nicotine withdrawal symptom count
EFO:0009264	maximum cigarettes per day measurement
EFO:0009265	nausea and vomiting of pregnancy severity measurement
EFO:0009268	family history of Alzheimer’s disease
EFO:0009270	heel bone mineral density
EFO:0009271	Epstein Barr virus nuclear antigen-1 seropositivity
EFO:0009272	Epstein Barr viral capsid antigen seropositivity
EFO:0009273	anti-Epstein Barr virus antibody measurement
EFO:0009275	premature cardiac contractions
EFO:0009276	ventricular ectopy
EFO:0009277	supraventricular ectopy
EFO:0009278	cranial vault morphology measurement
EFO:0009279	response to tenofovir
EFO:0009281	choroidal thickness measurement
EFO:0009282	sodium measurement
EFO:0009283	potassium measurement
EFO:0009284	chloride measurement
EFO:0009285	fractional shortening
EFO:0009286	heart relative wall thickness
EFO:0009303	fructosamine measurement
EFO:0009304	percent glycated albumin
EFO:0009305	total glycated albumin
EFO:0009306	atazanavir measurement
EFO:0009308	response to long-chain n-3 PUFA dietary supplementation
EFO:0009321	diabetic macular edema
EFO:0009322	proliferative diabetic retinopathy
EFO:0009323	alpha synuclein measurement
EFO:0009324	APOL1 risk genotype carrier status
EFO:0009325	basal ganglia growth measurement
EFO:0009327	cerebellum growth measurement
EFO:0009328	cerebral cortex growth measurement
EFO:0009330	Chlamydia trachomatis seropositivity
EFO:0009331	erosive tooth wear measurement
EFO:0009332	executive function measurement
EFO:0009334	prefrontal cortex growth measurement
EFO:0009335	white matter growth measurement
EFO:0009336	velopharyngeal dysfunction
EFO:0009357	Anti-rubella virus IgG measurement
EFO:0009360	eyelid sagging measurement
EFO:0009361	colorectal mucinous adenocarcinoma
EFO:0009362	nicotine withdrawal measurement
EFO:0009363	chronic central serous retinopathy
EFO:0009365	vaginal discharge
EFO:0009366	quality of life during menstruation measurement
EFO:0009367	glucose metabolism measurement
EFO:0009368	factor VII activating protease measurement
EFO:0009369	diffusing capacity of the lung for carbon monoxide
EFO:0009373	edema
EFO:0009374	energy intake measurement
EFO:0009381	fibroblast growth factor 23 measurement
EFO:0009382	metabolically healthy obesity
EFO:0009392	glucose metabolism decline measurement
EFO:0009393	breast pressure measurement
EFO:0009394	hippocampal CA1 volume
EFO:0009395	hippocampal CA3 volume
EFO:0009396	hippocampal CA4 volume
EFO:0009397	hippocampus molecular layer volume
EFO:0009398	hippocampal tail volume
EFO:0009399	subiculum volume
EFO:0009400	presubiculum volume
EFO:0009403	granule cell layer dentate gyrus volume
EFO:0009404	hippocampal fissure volume
EFO:0009408	abnormal vaginal discharge smell
EFO:0009409	abnormal vaginal discharge itching
EFO:0009410	uterine fibroid measurement
EFO:0009413	CCL15 measurement
EFO:0009414	CCL17 measurement
EFO:0009415	CCL19 measurement
EFO:0009416	CCL21 measurement
EFO:0009417	CCL23 measurement
EFO:0009418	CCL24 measurement
EFO:0009419	CX3CL1 measurement
EFO:0009420	CXCL12 measurement
EFO:0009421	CXCL13 measurement
EFO:0009422	CXCL5 measurement
EFO:0009423	CXCL6 measurement
EFO:0009438	number of pregnancies measurement
EFO:0009443	BRCAX breast cancer
EFO:0009458	alcohol use disorder measurement
EFO:0009459	ACPA-positive rheumatoid arthritis
EFO:0009584	AQP4-IgG-positive neuromyelitis optica
EFO:0009588	"feeling ""fed-up"" measurement"
EFO:0009589	worry measurement
EFO:0009592	social interaction measurement
EFO:0009594	irritability measurement
EFO:0009595	guilt measurement
EFO:0009596	feeling tense measurement
EFO:0009597	feeling nervous measurement
EFO:0009598	feeling miserable measurement
EFO:0009599	feeling emotionally hurt measurement
EFO:0009603	stroke outcome severity measurement
EFO:0009636	cesarean section
EFO:0009693	thiopurine metabolite measurement
EFO:0009698	gestational blood glucose measurement
EFO:0009699	foot muscle strength measurement
EFO:0009702	intra-individual reaction time variability measurement
EFO:0009703	red blood cell folate measurement
EFO:0009704	radiation-induced brain injury
EFO:0009705	small intestine enteropathy
EFO:0009706	latent autoimmune diabetes in adults
EFO:0009748	response to ketamine
EFO:0009749	age at first sexual intercourse measurement
EFO:0009750	dissociation measurement
EFO:0009751	facial asymmetry measurement
EFO:0009752	visuospatial impairment
EFO:0009759	Chronic Obstructive Asthma
EFO:0009761	periprosthetic osteolysis
EFO:0009762	healthspan
EFO:0009764	eye colour measurement
EFO:0009765	alanine measurement
EFO:0009766	asparagine measurement
EFO:0009767	glycine measurement
EFO:0009768	glutamine measurement
EFO:0009769	histidine measurement
EFO:0009770	leucine measurement
EFO:0009771	methionine measurement
EFO:0009773	proline measurement
EFO:0009774	serine measurement
EFO:0009775	threonine measurement
EFO:0009776	ornithine measurement
EFO:0009777	citrulline measurement
EFO:0009779	tri-iodothyronine/thyroxine ratio measurement
EFO:0009781	progesterone-receptor negative breast cancer
EFO:0009783	carotid atherosclerosis
EFO:0009785	remission
EFO:0009791	fatty acid desaturase enzyme activity measurement
EFO:0009794	NRF2 measurement
EFO:0009795	serum urea measurement
EFO:0009796	response to supplemental oxygen
EFO:0009806	total hip arthroplasty
EFO:0009854	treatment resistant depression
EFO:0009855	frontal fibrosing alopecia
EFO:0009857	ruminative stress response
EFO:0009858	brooding stress response
EFO:0009859	reflective stress response
EFO:0009863	anxiety measurement
EFO:0009864	metabolic network measurement
EFO:0009865	transcriptome measurement
EFO:0009882	urinary potassium to creatinine ratio
EFO:0009883	urinary sodium to creatinine ratio
EFO:0009884	urinary sodium to potassium ratio
EFO:0009890	lean mass-adjusted fat body mass
EFO:0009891	carbamazepine metabolite measurement
EFO:0009892	facial attractiveness measurement
EFO:0009893	response to oxcarbazepine
EFO:0009894	carbamazepine-induced hyponatremia
EFO:0009895	oxcarbazepine-induced hyponatremia
EFO:0009896	anti-thyroglobulin antibody measurement
EFO:1001253	maculopapular eruption
EFO:1001436	thyroid nodule
EFO:1001459	diabetic foot
EFO:1001466	Graves ophthalmopathy
EFO:1001480	metastatic colorectal cancer
EFO:1001482	cardiotoxicity
EFO:1001486	primary biliary cirrhosis
EFO:1001488	influenza A (H1N1)
EFO:1001490	late-onset myasthenia gravis
EFO:1001492	atrophic macular degeneration
EFO:1001493	cardiac embolism
EFO:1001494	psoriasis vulgaris
EFO:1001495	small artery occlusion
EFO:1001504	small vessel stroke
EFO:1001507	asparaginase-induced acute pancreatitis
EFO:1001510	specific language impairment
EFO:1001512	endometrial carcinoma
EFO:1001514	endometrial endometrioid carcinoma
EFO:1001515	ovarian endometrioid carcinoma
EFO:1001516	ovarian serous carcinoma
EFO:1001870	late-onset Alzheimers disease
EFO:1001925	pneumococcal bacteremia
EFO:1001930	idiopathic osteonecrosis of the femoral head
EFO:1001976	cardioembolic stroke
EFO:1002006	treatment-resistant hypertension
EFO:1002009	macular telangiectasia type 2
EFO:1002011	adult onset asthma
EFO:1002012	ligament rupture
EFO:1002029	chronic rhinosinusitis with nasal polyps
EFO:1002031	Hodgkins lymphoma
EFO:1002040	Corneal astigmatism
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:0000020	Urinary incontinence
HP:0000021	Megacystis
HP:0000022	Abnormality of male internal genitalia
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: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: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	Abnormal renal tubule morphology
HP:0000092	Tubular atrophy
HP:0000093	Proteinuria
HP:0000095	Abnormality of renal glomerulus morphology
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:0000113	Polycystic kidney dysplasia
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	Abnormal lip morphology
HP:0000160	Narrow mouth
HP:0000161	Median cleft lip
HP:0000162	Glossoptosis
HP:0000163	Abnormal oral cavity morphology
HP:0000164	Abnormality of the dentition
HP:0000166	Severe periodontitis
HP:0000168	Abnormality of the gingiva
HP:0000169	Gingival fibromatosis
HP:0000171	Microglossia
HP:0000172	Abnormality of the uvula
HP:0000174	Abnormal palate morphology
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	Abnormal oral frenulum morphology
HP:0000191	Accessory oral frenulum
HP:0000193	Bifid uvula
HP:0000194	Open mouth
HP:0000196	Lower lip pit
HP:0000197	Abnormal parotid gland morphology
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:0000242	Parietal bossing
HP:0000243	Trigonocephaly
HP:0000244	Brachyturricephaly
HP:0000246	Sinusitis
HP:0000248	Brachycephaly
HP:0000250	Dense calvaria
HP:0000252	Microcephaly
HP:0000253	Progressive microcephaly
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:0000306	Abnormality of the chin
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: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: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	Abnormal cochlea morphology
HP:0000376	Incomplete partition of the cochlea type II
HP:0000377	Abnormality of the pinna
HP:0000378	Cupped ear
HP:0000381	Stapes ankylosis
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:0000429	Abnormality of the nasal alae
HP:0000430	Underdeveloped nasal alae
HP:0000431	Wide nasal bridge
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	Abnormal retinal morphology
HP:0000480	Retinal coloboma
HP:0000481	Abnormal cornea morphology
HP:0000482	Microcornea
HP:0000483	Astigmatism
HP:0000484	Hyperopic astigmatism
HP:0000485	Megalocornea
HP:0000486	Strabismus
HP:0000488	Retinopathy
HP:0000490	Deeply set eye
HP:0000491	Keratitis
HP:0000492	Abnormal eyelid morphology
HP:0000493	Abnormal foveal morphology
HP:0000494	Downslanted palpebral fissures
HP:0000495	Recurrent corneal erosions
HP:0000496	Abnormality of eye movement
HP:0000498	Blepharitis
HP:0000499	Abnormal eyelash morphology
HP:0000501	Glaucoma
HP:0000502	Abnormal conjunctiva morphology
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:0000518	Cataract
HP:0000519	Developmental cataract
HP:0000520	Proptosis
HP:0000522	Alacrima
HP:0000523	Subcapsular cataract
HP:0000524	Conjunctival telangiectasia
HP:0000525	Abnormality iris morphology
HP:0000526	Aniridia
HP:0000527	Long eyelashes
HP:0000528	Anophthalmia
HP:0000529	Progressive visual loss
HP:0000531	Corneal crystals
HP:0000532	Abnormal chorioretinal morphology
HP:0000533	Chorioretinal atrophy
HP:0000534	Abnormal eyebrow morphology
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:0000548	Cone/cone-rod dystrophy
HP:0000549	Abnormal conjugate eye movement
HP:0000550	Undetectable electroretinogram
HP:0000551	Color vision defect
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	Abnormal 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: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	Abnormal sclera morphology
HP:0000592	Blue sclerae
HP:0000593	Abnormal anterior chamber morphology
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:0000610	Abnormal choroid morphology
HP:0000612	Iris coloboma
HP:0000613	Photophobia
HP:0000614	Abnormal nasolacrimal system morphology
HP:0000615	Abnormal pupil morphology
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	Eyelid coloboma
HP:0000627	Posterior embryotoxon
HP:0000629	Periorbital fullness
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: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: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	Depressivity
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: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: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: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	Abnormal skull morphology
HP:0000932	Abnormality of the posterior cranial fossa
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: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: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: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 pterygium
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	Developmental glaucoma
HP:0001088	Brushfield spots
HP:0001089	Iris atrophy
HP:0001090	Abnormally large globe
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:0001098	Abnormal fundus morphology
HP:0001099	Fundus atrophy
HP:0001100	Heterochromia iridis
HP:0001101	Iritis
HP:0001102	Angioid streaks of the fundus
HP:0001103	Abnormal macular morphology
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:0001135	Chorioretinal dystrophy
HP:0001136	Retinal arteriolar tortuosity
HP:0001137	Alternating esotropia
HP:0001138	Optic neuropathy
HP:0001139	Choroideremia
HP:0001140	Limbal dermoid
HP:0001141	Severely reduced visual acuity
HP:0001142	Lenticonus
HP:0001144	Orbital cyst
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	Abnormal thumb morphology
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	Abnormal fingertip morphology
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: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	Abnormal cranial nerve morphology
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: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: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:0001436	Abnormality of the foot musculature
HP:0001437	Abnormality of the musculature of the lower limbs
HP:0001438	Abnormality of abdomen morphology
HP:0001440	Metatarsal synostosis
HP:0001446	Abnormality of the musculature of the upper limbs
HP:0001459	1-3 toe syndactyly
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
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: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:0001551	Abnormal umbilicus morphology
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 hypercortisolism
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:0001595	Abnormal hair morphology
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	Abnormal mitral valve morphology
HP:0001634	Mitral valve prolapse
HP:0001635	Congestive heart failure
HP:0001636	Tetralogy of Fallot
HP:0001637	Abnormal myocardium morphology
HP:0001638	Cardiomyopathy
HP:0001639	Hypertrophic cardiomyopathy
HP:0001640	Cardiomegaly
HP:0001641	Abnormal pulmonary valve morphology
HP:0001642	Pulmonic stenosis
HP:0001643	Patent ductus arteriosus
HP:0001644	Dilated cardiomyopathy
HP:0001645	Sudden cardiac death
HP:0001646	Abnormal aortic valve morphology
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	Abnormal heart valve morphology
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	Abnormal cardiac septum morphology
HP:0001674	Complete atrioventricular canal defect
HP:0001677	Coronary artery atherosclerosis
HP:0001678	Atrioventricular block
HP:0001679	Abnormal aortic morphology
HP:0001680	Coarctation of aorta
HP:0001681	Angina pectoris
HP:0001682	Subvalvular aortic stenosis
HP:0001684	Secundum atrial septal defect
HP:0001685	Myocardial fibrosis
HP:0001686	Loss of voice
HP:0001688	Sinus bradycardia
HP:0001692	Atrial arrhythmia
HP:0001694	Right-to-left shunt
HP:0001695	Cardiac arrest
HP:0001696	Situs inversus totalis
HP:0001697	Abnormal pericardium morphology
HP:0001698	Pericardial effusion
HP:0001700	Myocardial necrosis
HP:0001701	Pericarditis
HP:0001702	Abnormal tricuspid valve morphology
HP:0001704	Tricuspid valve prolapse
HP:0001705	Right ventricular outlet tract obstruction
HP:0001706	Endocardial fibroelastosis
HP:0001708	Right ventricular failure
HP:0001709	Third degree atrioventricular block
HP:0001710	Conotruncal defect
HP:0001711	Abnormal left ventricle morphology
HP:0001712	Left ventricular hypertrophy
HP:0001713	Abnormal cardiac ventricle morphology
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: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: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	Onychogryposis
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:0001829	Foot polydactyly
HP:0001830	Postaxial foot polydactyly
HP:0001831	Short toe
HP:0001832	Abnormal metatarsal morphology
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: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: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	Abnormal thrombocyte morphology
HP:0001873	Thrombocytopenia
HP:0001874	Abnormality of neutrophils
HP:0001875	Neutropenia
HP:0001876	Pancytopenia
HP:0001877	Abnormal erythrocyte morphology
HP:0001878	Hemolytic anemia
HP:0001879	Abnormal eosinophil morphology
HP:0001880	Eosinophilia
HP:0001881	Abnormal leukocyte morphology
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	Neutropenia in presence of anti-neutropil antibodies
HP:0001905	Congenital thrombocytopenia
HP:0001907	Thromboembolism
HP:0001908	Hypoplastic anemia
HP:0001909	Leukemia
HP:0001911	Abnormal granulocyte morphology
HP:0001912	Abnormal basophil morphology
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:0001952	Glucose intolerance
HP:0001953	Diabetic ketoacidosis
HP:0001954	Recurrent 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: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:0001985	Hypoketotic hypoglycemia
HP:0001986	Hypertonic dehydration
HP:0001987	Hyperammonemia
HP:0001988	Recurrent hypoglycemia
HP:0001989	Fetal akinesia sequence
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: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	Abnormal 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:0002055	Curved linear dimple below the lower lip
HP:0002056	Abnormality of the glabella
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:0002068	Neuromuscular dysphagia
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	Abnormal 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: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	Porencephalic cyst
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-onset seizure
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	Abnormal intestine morphology
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	Abnormal large intestine morphology
HP:0002251	Aganglionic megacolon
HP:0002253	Colonic diverticula
HP:0002254	Intermittent diarrhea
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:0002273	Tetraparesis
HP:0002275	Poor motor coordination
HP:0002277	Horner syndrome
HP:0002280	Enlarged cisterna magna
HP:0002282	Gray matter 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	Abnormal caudate nucleus morphology
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 aware seizure
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:0002376	Developmental regression
HP:0002378	Hand tremor
HP:0002380	Fasciculations
HP:0002381	Aphasia
HP:0002383	Encephalitis
HP:0002384	Focal impaired awareness seizure
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: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	Abnormal globus pallidus morphology
HP:0002454	Eye of the tiger anomaly of globus pallidus
HP:0002457	Abnormal head movements
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: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 aneurysm
HP:0002617	Dilatation
HP:0002619	Varicose veins
HP:0002621	Atherosclerosis
HP:0002623	Overriding aorta
HP:0002624	Abnormal venous morphology
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:0002632	Low-to-normal blood pressure
HP:0002633	Vasculitis
HP:0002634	Arteriosclerosis
HP:0002635	Type IV atherosclerotic lesion
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: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	Abnormal parietal bone morphology
HP:0002697	Parietal foramina
HP:0002700	Large foramen magnum
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:0002718	Recurrent bacterial infections
HP:0002719	Recurrent infections
HP:0002720	Decreased circulating IgA level
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: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: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	Abnormal T cell morphology
HP:0002846	Abnormal B cell morphology
HP:0002847	Impaired memory B cell generation
HP:0002848	Specific anti-polysaccharide antibody deficiency
HP:0002849	Absence of lymph node germinal center
HP:0002850	Decreased circulating total IgM
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
HP:0002853	Increased proportion of HLA DR+ 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 transaminase
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: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: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	Abnormal patella morphology
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: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:0003113	Hypochloremia
HP:0003115	Abnormal EKG
HP:0003116	Abnormal echocardiogram
HP:0003117	Abnormal circulating hormone level
HP:0003118	Increased circulating cortisol level
HP:0003119	Abnormal circulating lipid concentration
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:0003141	Increased LDL cholesterol concentration
HP:0003144	Increased serum serotonin
HP:0003145	Decreased adenosylcobalamin
HP:0003146	Hypocholesterolemia
HP:0003148	Elevated serum acid phosphatase
HP:0003149	Hyperuricosuria
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: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	Impaired oxidative burst
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 circulating total 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 coagulation 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	Decreased HDL cholesterol concentration
HP:0003234	Decreased plasma carnitine
HP:0003235	Hypermethioninemia
HP:0003236	Elevated serum creatine kinase
HP:0003237	Increased circulating IgG level
HP:0003238	Hyperpepsinogenemia I
HP:0003239	Phosphoethanolaminuria
HP:0003240	Increased phosphoribosylpyrophosphate synthetase activity
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:0003256	Abnormality of the coagulation cascade
HP:0003258	Glyoxalase deficiency
HP:0003259	Elevated serum creatinine
HP:0003260	Hydroxyprolinemia
HP:0003261	Increased circulating 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: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:0003328	Abnormal hair laboratory examination
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:0003339	Pyrimidine-responsive megaloblastic anemia
HP:0003341	Junctional split
HP:0003343	Reduced glutathione synthetase activity
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 rate
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 VLDL cholesterol concentration
HP:0003363	Abdominal situs inversus
HP:0003365	Arthralgia of the hip
HP:0003366	Abnormality of the femoral neck or head region
HP:0003367	Abnormality of the femoral neck
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 spasm
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 circulating long chain fatty acid concentration
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:0003465	Elevated 8(9)-cholestenol
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test
HP:0003467	Atlantoaxial instability
HP:0003468	Abnormal vertebral morphology
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:0003491	Elevated urine pyrophosphate
HP:0003493	Antinuclear antibody positivity
HP:0003495	GM2-ganglioside accumulation
HP:0003496	Increased circulating IgM level
HP:0003498	Disproportionate short stature
HP:0003502	Mild short stature
HP:0003508	Proportionate short stature
HP:0003510	Severe short stature
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:0003532	Ornithinuria
HP:0003533	Reduced acetaldehyde dehydrogenase activity
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: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	Decreased LDL cholesterol concentration
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: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 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:0003800	Muscle abnormality related to mitochondrial dysfunction
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:0003834	Shoulder dislocation
HP:0003862	Absent humerus
HP:0003865	Bowed humerus
HP:0003874	Humerus varus
HP:0003902	Epiphyseal stippling of the humerus
HP:0003909	Cortical subperiosteal resorption of humeral metaphyses
HP:0003911	Flared humeral metaphysis
HP:0003943	Abnormality of the joint spaces of the elbow
HP:0003974	Absent radius
HP:0003977	Deformed radius
HP:0003978	Fractured radius
HP:0003982	Aplasia of the ulna
HP:0003988	Long ulna
HP:0003992	Slender ulna
HP:0003993	Broad ulna
HP:0003994	Dislocated wrist
HP:0003997	Hypoplastic radial head
HP:0004000	Cone-shaped distal radial epiphysis
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:0004180	Short distal phalanx of the 3rd 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: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:0004241	Stippled calcification in carpal bones
HP:0004243	Abnormality of the scaphoid
HP:0004252	Abnormality of the trapezium
HP:0004268	Osteoarthritis of the small joints of the hand
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:0004298	Abnormality of the abdominal wall
HP:0004302	Functional motor deficit
HP:0004303	Abnormal muscle fiber morphology
HP:0004305	Involuntary movements
HP:0004306	Abnormal endocardium morphology
HP:0004307	Abnormal anatomic location of the heart
HP:0004308	Ventricular arrhythmia
HP:0004309	Ventricular preexcitation
HP:0004311	Abnormal macrophage morphology
HP:0004312	Abnormal reticulocyte morphology
HP:0004313	Decreased antibody level in blood
HP:0004315	Decreased circulating IgG level
HP:0004322	Short stature
HP:0004323	Abnormality of body weight
HP:0004324	Increased body weight
HP:0004325	Decreased body weight
HP:0004326	Cachexia
HP:0004327	Abnormal vitreous humor morphology
HP:0004330	Increased skull ossification
HP:0004331	Decreased skull ossification
HP:0004332	Abnormal lymphocyte morphology
HP:0004333	Bone-marrow foam cells
HP:0004334	Dermal atrophy
HP:0004336	Myelin outfoldings
HP:0004337	Abnormality of amino acid metabolism
HP:0004341	Abnormality of vitamin B12 metabolism
HP:0004343	Abnormality of glycosphingolipid metabolism
HP:0004345	Ganglioside accumulation
HP:0004347	Weakness of muscles of respiration
HP:0004348	Abnormality of bone mineral density
HP:0004349	Reduced bone mineral density
HP:0004354	Abnormal circulating carboxylic acid concentration
HP:0004357	Abnormal circulating leucine concentration
HP:0004359	Abnormal circulating fatty-acid concentration
HP:0004361	Abnormality of circulating leptin level
HP:0004362	Abnormality of enteric ganglion morphology
HP:0004365	Abnormal circulating tryptophan concentration
HP:0004370	Abnormality of temperature regulation
HP:0004372	Reduced consciousness/confusion
HP:0004373	Focal dystonia
HP:0004374	Hemiplegia/hemiparesis
HP:0004375	Neoplasm of the nervous system
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: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: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:0004426	Abnormality of the cheek
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: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:0004471	Aplasia cutis congenita over the scalp vertex
HP:0004472	Mandibular hyperostosis
HP:0004474	Persistent open anterior fontanelle
HP:0004481	Progressive macrocephaly
HP:0004482	Relative macrocephaly
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:0004529	Atrophic, patchy alopecia
HP:0004540	Congenital, generalized hypertrichosis
HP:0004552	Scarring alopecia of scalp
HP:0004554	Generalized hypertrichosis
HP:0004558	Cervical platyspondyly
HP:0004562	Beaking of vertebral bodies T12-L3
HP:0004563	Increased spinal bone density
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:0004576	Sclerotic vertebral endplates
HP:0004582	Irregularity of vertebral bodies
HP:0004586	Biconcave vertebral bodies
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:0004602	Cervical C2/C3 vertebral fusion
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:0004611	Anterior concavity of thoracic vertebrae
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: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:0004704	Short fifth metatarsal
HP:0004712	Renal malrotation
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:0004732	Impaired renal uric acid clearance
HP:0004734	Renal cortical microcysts
HP:0004736	Crossed fused renal ectopia
HP:0004737	Global glomerulosclerosis
HP:0004742	Abnormal renal collecting system morphology
HP:0004743	Chronic tubulointerstitial nephritis
HP:0004746	Glomerular subendothelial electron-dense deposits
HP:0004749	Atrial flutter
HP:0004751	Paroxysmal ventricular tachycardia
HP:0004754	Permanent atrial fibrillation
HP:0004755	Supraventricular tachycardia
HP:0004756	Ventricular tachycardia
HP:0004757	Paroxysmal atrial fibrillation
HP:0004758	Effort-induced polymorphic ventricular tachycardia
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:0004771	Premature graying of body hair
HP:0004779	Brittle scalp hair
HP:0004783	Duodenal polyposis
HP:0004784	Juvenile gastrointestinal polyposis
HP:0004785	Malrotation of colon
HP:0004787	Fulminant hepatitis
HP:0004789	Lactose intolerance
HP:0004791	Esophageal ulceration
HP:0004792	Rectoperineal fistula
HP:0004794	Malrotation of small bowel
HP:0004795	Hamartomatous stomach polyps
HP:0004796	Gastrointestinal obstruction
HP:0004798	Recurrent infection of the gastrointestinal tract
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: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:0004823	Anisopoikilocytosis
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:0004859	Amegakaryocytic thrombocytopenia
HP:0004860	Thiamine-responsive megaloblastic anemia
HP:0004861	Refractory macrocytic anemia
HP:0004863	Compensated hemolytic 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: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: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	Low levels of vitamin A
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:0004918	Hyperchloremic metabolic acidosis
HP:0004920	Phenylpyruvic acidemia
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: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:0004942	Aortic aneurysm
HP:0004943	Accelerated atherosclerosis
HP:0004944	Dilatation of the cerebral artery
HP:0004947	Arteriovenous fistula
HP:0004948	Vascular tortuosity
HP:0004950	Peripheral arterial stenosis
HP:0004955	Generalized arterial tortuosity
HP:0004959	Descending thoracic aorta aneurysm
HP:0004960	Absent pulmonary artery
HP:0004961	Pulmonary artery sling
HP:0004962	Thoracic aorta calcification
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 tubular aorta aneurysm
HP:0004971	Pulmonary artery hypoplasia
HP:0004972	Elevated mean arterial pressure
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: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:0005005	Femoral bowing present at birth, straightening with time
HP:0005008	Large joint dislocations
HP:0005010	Osteomyelitis leading to amputation due to slow healing fractures
HP:0005011	Mesomelic arm shortening
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:0005037	Proximal radio-ulnar synostosis
HP:0005041	Irregular capital femoral epiphysis
HP:0005042	Irregular, rachitic-like metaphyses
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: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: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	Abnormal sacrum morphology
HP:0005108	Abnormality of the intervertebral disk
HP:0005109	Abnormality of the Achilles tendon
HP:0005110	Atrial fibrillation
HP:0005112	Abdominal aortic aneurysm
HP:0005113	Aortic arch aneurysm
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:0005132	Pericardial constriction
HP:0005133	Right ventricular dilatation
HP:0005135	Abnormal T-wave
HP:0005136	Mitral annular calcification
HP:0005144	Ventricular septal hypertrophy
HP:0005145	Coronary artery stenosis
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 rhythm
HP:0005156	Hypoplastic left atrium
HP:0005157	Concentric hypertrophic cardiomyopathy
HP:0005160	Total anomalous pulmonary venous return
HP:0005162	Left ventricular dysfunction
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:0005176	Dysplastic aortic valve
HP:0005177	Premature arteriosclerosis
HP:0005180	Tricuspid regurgitation
HP:0005181	Premature coronary artery atherosclerosis
HP:0005182	Bicuspid pulmonary valve
HP:0005183	Pericardial lymphangiectasia
HP:0005184	Prolonged QTc interval
HP:0005186	Synovial hypertrophy
HP:0005194	Flattened metatarsal heads
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:0005208	Secretory diarrhea
HP:0005211	Midgut malrotation
HP:0005212	Anal mucosal leukoplakia
HP:0005213	Pancreatic calcification
HP:0005214	Intestinal obstruction
HP:0005216	Impaired mastication
HP:0005217	Duplication of internal organs
HP:0005218	Anoperineal fistula
HP:0005219	Absence of intrinsic factor
HP:0005222	Bowel diverticulosis
HP:0005224	Rectal abscess
HP:0005225	Intestinal edema
HP:0005227	Adenomatous colonic polyposis
HP:0005229	Jejunoileal ulceration
HP:0005230	Biliary tract obstruction
HP:0005235	Jejunal atresia
HP:0005242	Extrahepatic biliary duct atresia
HP:0005243	Partial abdominal muscle agenesis
HP:0005244	Gastrointestinal infarctions
HP:0005245	Intestinal hypoplasia
HP:0005247	Hypoplasia of the abdominal wall musculature
HP:0005248	Intrahepatic biliary atresia
HP:0005249	Functional intestinal obstruction
HP:0005253	Increased anterioposterior diameter of thorax
HP:0005254	Unilateral chest hypoplasia
HP:0005255	Absence of pectoralis minor 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: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:0005291	Inflammatory arteriopathy
HP:0005292	Intimal thickening in the coronary arteries
HP:0005293	Venous insufficiency
HP:0005294	Arterial dissection
HP:0005297	Premature occlusive vascular stenosis
HP:0005301	Persistent left superior vena cava
HP:0005302	Carotid artery tortuosity
HP:0005304	Hypoplastic pulmonary veins
HP:0005305	Cerebral venous thrombosis
HP:0005306	Capillary hemangioma
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: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: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	Abnormal carotid artery morphology
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	Recurrent herpes
HP:0005354	Lack of T cell function
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: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:0005376	Recurrent Haemophilus influenzae infections
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:0005400	Reduction of neutrophil motility
HP:0005401	Recurrent candida infections
HP:0005403	Decrease in T cell count
HP:0005404	Increased B cell count
HP:0005406	Recurrent bacterial skin infections
HP:0005407	Decreased proportion of CD4-positive T cells
HP:0005415	Decreased proportion of CD8-positive 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-positive 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:0005435	Impaired T cell function
HP:0005437	Recurrent infections in infancy and early childhood
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: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	Decreased circulating total IgE
HP:0005483	Abnormal epiglottis morphology
HP:0005484	Postnatal microcephaly
HP:0005487	Prominent metopic ridge
HP:0005490	Postnatal macrocephaly
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:0005508	Monoclonal immunoglobulin M proteinemia
HP:0005511	Heinz body anemia
HP:0005513	Increased megakaryocyte count
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: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: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: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: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:0005607	Abnormal tracheobronchial morphology
HP:0005608	Bilobate gallbladder
HP:0005609	Gallbladder dysfunction
HP:0005613	Aplasia/hypoplasia of the femur
HP:0005616	Accelerated skeletal maturation
HP:0005617	Bilateral camptodactyly
HP:0005619	Thoracolumbar kyphosis
HP:0005621	Trapezoidal shaped vertebral bodies
HP:0005622	Broad long bones
HP:0005623	Absent ossification of calvaria
HP:0005625	Osteoporosis of vertebrae
HP:0005627	Type D brachydactyly
HP:0005632	Absent forearm
HP:0005639	Hyperextensible hand joints
HP:0005640	Abnormal vertebral segmentation and fusion
HP:0005645	Intervertebral disk calcification
HP:0005652	Cortical sclerosis
HP:0005655	Multiple digital exostoses
HP:0005656	Positional foot deformity
HP:0005659	Thoracic kyphoscoliosis
HP:0005661	Salmonella osteomyelitis
HP:0005671	Bilateral intracranial calcifications
HP:0005679	Dupuytren contracture
HP:0005681	Juvenile rheumatoid arthritis
HP:0005682	Talocalcaneal synostosis
HP:0005684	Distal arthrogryposis
HP:0005686	Patchy osteosclerosis
HP:0005688	Dysplastic distal thumb phalanges with a central hole
HP:0005692	Joint hyperflexibility
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:0005716	Lethal skeletal dysplasia
HP:0005731	Cortical irregularity
HP:0005733	Spinal stenosis with reduced interpedicular distance
HP:0005736	Short tibia
HP:0005743	Avascular necrosis of the capital femoral epiphysis
HP:0005745	Congenital foot contractures
HP:0005746	Osteosclerosis of the base of the skull
HP:0005750	Contractures of the joints of the lower limbs
HP:0005756	Neonatal epiphyseal stippling
HP:0005758	Basilar impression
HP:0005759	Small flat posterior fossa
HP:0005764	Polyarticular arthritis
HP:0005766	Disproportionate shortening of the tibia
HP:0005768	2-4 toe cutaneous syndactyly
HP:0005769	Fifth finger distal phalanx clinodactyly
HP:0005772	Aplasia/Hypoplasia of the tibia
HP:0005775	Multiple skeletal anomalies
HP:0005780	Absent fourth finger distal interphalangeal crease
HP:0005781	Contractures of the large joints
HP:0005789	Generalized osteosclerosis
HP:0005791	Cortical thickening of long bone diaphyses
HP:0005792	Short humerus
HP:0005793	Shortening of all distal phalanges of the toes
HP:0005807	Absent distal phalanges
HP:0005815	Supernumerary ribs
HP:0005817	Postaxial polysyndactyly of foot
HP:0005819	Short middle phalanx of finger
HP:0005830	Flexion contracture of toe
HP:0005831	Type B brachydactyly
HP:0005841	Calcific stippling of infantile cartilaginous skeleton
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:0005876	Progressive flexion contractures
HP:0005877	Multiple small vertebral fractures
HP:0005879	Congenital finger flexion contractures
HP:0005880	Metacarpophalangeal synostosis
HP:0005886	Aphalangy of the hands
HP:0005890	Hyperostosis cranialis interna
HP:0005895	Radial deviation of thumb terminal phalanx
HP:0005897	Severe generalized osteoporosis
HP:0005900	Fifth metacarpal with ulnar notch
HP:0005905	Abnormal cervical curvature
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:0005934	Imperfect vocal cord adduction
HP:0005938	Abnormal respiratory motile cilium morphology
HP:0005941	Intermittent hyperpnea at rest
HP:0005942	Desquamative interstitial pneumonitis
HP:0005943	Respiratory arrest
HP:0005944	Bilateral lung agenesis
HP:0005946	Ventilator dependence with inability to wean
HP:0005947	Decreased sensitivity to hypoxemia
HP:0005948	Multiple pulmonary cysts
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: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: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: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: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:0006048	Distal widening of metacarpals
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: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:0006107	Fingerpad telangiectases
HP:0006109	Absent phalangeal crease
HP:0006110	Shortening of all middle phalanges of the fingers
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
HP:0006127	Long proximal phalanx of finger
HP:0006129	Drumstick terminal phalanges
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:0006155	Long phalanx of finger
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:0006172	Flattened, squared-off epiphyses of tubular bones
HP:0006174	Metacarpal diaphyseal endosteal sclerosis
HP:0006176	Two carpal ossification centers present at birth
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:0006190	Radially deviated wrists
HP:0006191	Deep palmar crease
HP:0006193	Thimble-shaped middle phalanges of hand
HP:0006200	Widened distal phalanges
HP:0006201	Hypermobility of distal interphalangeal joints
HP:0006203	Decreased movement range in interphalangeal joints
HP:0006206	Hypersegmentation of proximal phalanx of second finger
HP:0006207	Partial fusion of carpals
HP:0006208	Metaphyseal cupping of proximal phalanges
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:0006228	Valgus hand deformity
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: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: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: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:0006323	Premature loss of primary teeth
HP:0006332	Supernumerary maxillary incisor
HP:0006334	Hypoplasia of the primary teeth
HP:0006335	Persistence of primary teeth
HP:0006336	Short dental roots
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:0006355	Agenesis of mandibular central incisor
HP:0006357	Premature loss of permanent teeth
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:0006371	Broad long bone diaphyses
HP:0006375	Dumbbell-shaped femur
HP:0006376	Limited elbow flexion
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: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:0006414	Distal tibial bowing
HP:0006415	Cortically dense long tubular bones
HP:0006417	Broad femoral 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: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:0006442	Hypoplasia of proximal fibula
HP:0006443	Patellar aplasia
HP:0006446	Dysplastic patella
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 flexion 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:0006479	Abnormality of the dental pulp
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: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:0006507	Aplasia/hypoplasia of the humerus
HP:0006510	Chronic obstructive pulmonary disease
HP:0006511	Laryngeal stridor
HP:0006514	Intraalveolar nodular calcifications
HP:0006515	Interstitial 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:0006528	Chronic lung disease
HP:0006530	Interstitial pulmonary abnormality
HP:0006531	Pleural lymphangiectasia
HP:0006532	Recurrent pneumonia
HP:0006535	Recurrent intrapulmonary hemorrhage
HP:0006536	Obstructive lung disease
HP:0006538	Recurrent bronchopulmonary infections
HP:0006543	Cardiorespiratory arrest
HP:0006548	Pulmonary arteriovenous malformation
HP:0006549	Unilateral primary pulmonary dysgenesis
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: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: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:0006591	Absent glenoid fossa
HP:0006593	Anomalous rib insertion to vertebrae
HP:0006595	Scapulohumeral synostosis
HP:0006597	Diaphragmatic paralysis
HP:0006598	Irregular ossification at anterior rib ends
HP:0006600	Progressive calcification of costochondral cartilage
HP:0006603	Flared, irregular rib ends
HP:0006608	Midclavicular hypoplasia
HP:0006610	Wide intermamillary distance
HP:0006615	Absent in utero rib ossification
HP:0006619	Anterior rib punctate calcifications
HP:0006628	Absent sternal ossification
HP:0006633	Glenoid fossa hypoplasia
HP:0006637	Sternal punctate calcifications
HP:0006638	Midclavicular aplasia
HP:0006640	Multiple rib fractures
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: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 clavicle
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:0006682	Ventricular extrasystoles
HP:0006684	Ventricular preexcitation with multiple accessory pathways
HP:0006685	Endocardial fibrosis
HP:0006687	Aortic tortuosity
HP:0006689	Bacterial endocarditis
HP:0006691	Pulmonic valve myxoma
HP:0006692	Short chordae tendineae of the tricuspid valve
HP:0006693	Myocardial steatosis
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: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:0006711	Aplasia/Hypoplasia involving bones of the thorax
HP:0006712	Aplasia/Hypoplasia of the ribs
HP:0006713	Aplasia/Hypoplasia of the scapulae
HP:0006714	Aplasia/Hypoplasia of the sternum
HP:0006715	Glomus tympanicum paraganglioma
HP:0006716	Hereditary nonpolyposis colorectal carcinoma
HP:0006719	Benign gastrointestinal tract tumors
HP:0006721	Acute lymphoblastic leukemia
HP:0006722	Small intestine carcinoid
HP:0006725	Pancreatic adenocarcinoma
HP:0006727	T-cell acute lymphoblastic leukemias
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:0006743	Embryonal rhabdomyosarcoma
HP:0006744	Adrenocortical carcinoma
HP:0006747	Ganglioneuroblastoma
HP:0006748	Adrenal pheochromocytoma
HP:0006753	Neoplasm of the stomach
HP:0006755	Cutaneous leiomyosarcoma
HP:0006756	Diffuse leiomyomatosis
HP:0006758	Malignant genitourinary tract tumor
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: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: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: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	4-layered lissencephaly
HP:0006821	Frontal polymicrogyria
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:0006834	Developmental stagnation at onset of seizures
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: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: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:0006904	Late-onset spinocerebellar degeneration
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:0006927	Unilateral polymicrogyria
HP:0006929	Hypoglycemic encephalopathy
HP:0006930	Frontoparietal cortical dysplasia
HP:0006931	Lipoma of corpus callosum
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: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:0006977	Grammar-specific speech disorder
HP:0006978	Dysmyelinating leukodystrophy
HP:0006979	Sleep-wake cycle disturbance
HP:0006980	Progressive leukoencephalopathy
HP:0006984	Distal sensory loss of all modalities
HP:0006986	Upper limb spasticity
HP:0006988	Alobar holoprosencephaly
HP:0006989	Dysplastic corpus callosum
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: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: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: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: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:0007112	Temporal cortical atrophy
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: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 heterotopia
HP:0007166	Paroxysmal dyskinesia
HP:0007178	Motor polyneuropathy
HP:0007179	Absent smooth pursuit
HP:0007182	Peripheral hypomyelination
HP:0007183	Focal T2 hyperintense basal ganglia lesion
HP:0007185	Loss of consciousness
HP:0007187	Focal lissencephaly
HP:0007190	Neuronal loss in the cerebral cortex
HP:0007193	Generalized tonic-clonic seizures on awakening
HP:0007199	Progressive spastic paraparesis
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:0007240	Progressive gait ataxia
HP:0007249	Decreased number of small peripheral myelinated nerve fibers
HP:0007256	Abnormal pyramidal sign
HP:0007258	Severe demyelination of the white matter
HP:0007260	Type II lissencephaly
HP:0007262	Symmetric peripheral demyelination
HP:0007263	Spinocerebellar atrophy
HP:0007266	Cerebral dysmyelination
HP:0007267	Chronic axonal neuropathy
HP:0007269	Spinal muscular atrophy
HP:0007270	Atypical absence seizure
HP:0007271	Occipital myelomeningocele
HP:0007272	Progressive psychomotor deterioration
HP:0007274	Recurrent bacterial meningitis
HP:0007277	Paucity of anterior horn motor neurons
HP:0007281	Developmental stagnation
HP:0007285	Facial palsy secondary to cranial hyperostosis
HP:0007289	Limb fasciculations
HP:0007291	Posterior fossa cyst
HP:0007293	Anterior sacral meningocele
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: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:0007348	Hypoplasia of the pyramidal tract
HP:0007350	Hyperreflexia in upper limbs
HP:0007351	Upper limb postural tremor
HP:0007352	Cerebellar calcifications
HP:0007354	Amyotrophic lateral sclerosis
HP:0007359	Focal-onset seizure
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:0007374	Atrophy/Degeneration involving the caudate nucleus
HP:0007375	Abnormality of the septum pellucidum
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: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:0007407	Excessive skin wrinkling on dorsum of hands and fingers
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: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: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:0007452	Midface capillary hemangioma
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: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: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: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:0007505	Progressive hyperpigmentation
HP:0007509	Patchy hypo- and hyperpigmentation
HP:0007513	Generalized hypopigmentation
HP:0007514	Edema of the dorsum of hands
HP:0007516	Redundant skin on fingers
HP:0007517	Palmoplantar cutis laxa
HP:0007522	Increased number of skin folds
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: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:0007561	Telangiectases in sun-exposed and nonexposed skin
HP:0007565	Multiple cafe-au-lait spots
HP:0007569	Generalized seborrheic dermatitis
HP:0007572	Hyperpigmented streaks
HP:0007574	Generalized bronze hyperpigmentation
HP:0007583	Telangiectasia macularis eruptiva perstans
HP:0007585	Skin fragility with non-scarring blistering
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:0007597	Congenital palmoplantar keratodermia
HP:0007598	Bilateral single transverse palmar creases
HP:0007599	Generalized reticulate brown pigmentation
HP:0007601	Midline facial capillary hemangioma
HP:0007603	Freckles in sun-exposed areas
HP:0007605	Excessive wrinkling of palmar skin
HP:0007607	Hypohidrotic ectodermal dysplasia
HP:0007609	Hypoproteinemic edema
HP:0007610	Blotching pigmentation of the skin
HP:0007613	Spinous keratoses of palms and soles
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 tractional retinal detachment
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:0007667	Peripheral cystoid retinal degeneration
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:0007700	Ocular anterior segment dysgenesis
HP:0007703	Abnormality of retinal pigmentation
HP:0007704	Paroxysmal involuntary eye movements
HP:0007705	Corneal degeneration
HP:0007707	Aphakia
HP:0007710	Peripheral vitreous opacities
HP:0007715	Weak extraocular muscles
HP:0007716	Uveal melanoma
HP:0007717	Chronic irritative conjunctivitis
HP:0007720	Flat cornea
HP:0007722	Retinal pigment epithelial atrophy
HP:0007727	Opacification of the corneal epithelium
HP:0007730	Iris hypopigmentation
HP:0007731	Chorioretinal dysplasia
HP:0007732	Lacrimal gland hypoplasia
HP:0007733	Laterally curved eyebrow
HP:0007737	Bone spicule pigmentation of the retina
HP:0007738	Uncontrolled eye movements
HP:0007740	Long eyelashes in irregular rows
HP:0007750	Hypoplasia of the fovea
HP:0007754	Macular dystrophy
HP:0007755	Juvenile epithelial corneal dystrophy
HP:0007759	Opacification of the corneal stroma
HP:0007760	Crystalline corneal dystrophy
HP:0007763	Retinal telangiectasia
HP:0007765	Deep anterior chamber
HP:0007766	Optic disc hypoplasia
HP:0007768	Central retinal vessel vascular tortuosity
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:0007778	Posterior retinal neovascularization
HP:0007779	Anterior segment of eye aplasia
HP:0007780	Cortical pulverulent cataract
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 length of the globe
HP:0007802	Granular corneal dystrophy
HP:0007803	Monochromacy
HP:0007807	Optic nerve compression
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:0007817	Horizontal supranuclear gaze palsy
HP:0007818	Central heterochromia
HP:0007819	Presenile cataracts
HP:0007824	Total ophthalmoplegia
HP:0007827	Nodular corneal dystrophy
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: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:0007862	Retinal calcification
HP:0007866	Retinal infarction
HP:0007872	Choroidal hemangioma
HP:0007873	Abnormally prominent line of Schwalbe
HP:0007874	Almond-shaped palpebral fissure
HP:0007875	Congenital blindness
HP:0007880	Marginal corneal dystrophy
HP:0007885	Slowed horizontal saccades
HP:0007889	Iridescent posterior subcapsular cataract
HP:0007892	Hypoplasia of the lacrimal punctum
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	Ocular hypertension
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: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:0007943	Congenital stapes ankylosis
HP:0007944	Intermittent microsaccadic pursuits
HP:0007946	Unilateral narrow palpebral fissure
HP:0007948	Dense posterior cortical cataract
HP:0007950	Peripapillary chorioretinal atrophy
HP:0007957	Corneal opacity
HP:0007958	Optic atrophy from cranial nerve compression
HP:0007962	Speckled corneal dystrophy
HP:0007963	Pattern dystrophy of the retina
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:0007993	Malformed lacrimal duct
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:0008011	Peripheral opacification of the cornea
HP:0008020	Cone dystrophy
HP:0008028	Cystoid macular degeneration
HP:0008031	Posterior Y-sutural cataract
HP:0008034	Abnormal iris pigmentation
HP:0008035	Retinitis pigmentosa inversa
HP:0008037	Absent anterior chamber of the eye
HP:0008038	Aplastic/hypoplastic lacrimal glands
HP:0008041	Late onset congenital glaucoma
HP:0008043	Retinal arteriolar constriction
HP:0008045	Enlarged flash visual evoked potentials
HP:0008046	Abnormal retinal vascular morphology
HP:0008049	Abnormality of the extraocular muscles
HP:0008050	Abnormality of the palpebral fissures
HP:0008052	Retinal fold
HP:0008053	Aplasia/Hypoplasia of the iris
HP:0008056	Aplasia/Hypoplasia affecting the eye
HP:0008058	Aplasia/Hypoplasia of the optic nerve
HP:0008059	Aplasia/Hypoplasia of the macula
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye
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:0008075	Progressive pes cavus
HP:0008078	Thin metatarsal cortices
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:0008096	Medially deviated second toe
HP:0008097	Partial fusion of tarsals
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: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:0008162	Asymptomatic hyperammonemia
HP:0008163	Decreased circulating cortisol level
HP:0008165	Decreased proportion 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:0008180	Mildly elevated creatine kinase
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:0008231	Macronodular adrenal hyperplasia
HP:0008232	Elevated circulating follicle stimulating hormone level
HP:0008233	Decreased circulating 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: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:0008269	Increased red cell hemolysis by shear stress
HP:0008271	Abnormal cartilage collagen
HP:0008273	Transient aminoaciduria
HP:0008275	Abnormal light-adapted electroretinogram
HP:0008277	Abnormal blood zinc concentration
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: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	Reduced circulating vitamin B6 level
HP:0008330	Reduced von Willebrand factor activity
HP:0008331	Elevated creatine kinase after exercise
HP:0008335	Renal aminoaciduria
HP:0008339	Diaminoaciduria
HP:0008341	Distal renal tubular acidosis
HP:0008344	Elevated plasma branched chain amino acids
HP:0008346	Increased red cell sickling tendency
HP:0008347	Decreased activity of mitochondrial complex IV
HP:0008348	Decreased circulating IgG2 level
HP:0008353	Neutral hyperaminoaciduria
HP:0008354	Factor X activation deficiency
HP:0008357	Reduced factor XIII activity
HP:0008358	Hyperprolinemia
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:0008373	Puberty and gonadal disorders
HP:0008376	Nasal, dysarthic speech
HP:0008386	Aplasia/Hypoplasia of the nails
HP:0008388	Abnormal toenail morphology
HP:0008390	Recurrent loss of toenails and fingernails
HP:0008391	Dystrophic fingernails
HP:0008392	Subungual hyperkeratosis
HP:0008394	Congenital onychodystrophy
HP:0008398	Hypoplastic fifth fingernail
HP:0008401	Onychogryposis of toenails
HP:0008402	Ridged fingernail
HP:0008404	Nail dystrophy
HP:0008410	Subungual hyperkeratotic fragments
HP:0008414	Lumbar kyphosis in infancy
HP:0008416	Six lumbar vertebrae
HP:0008417	Vertebral hypoplasia
HP:0008419	Intervertebral disc degeneration
HP:0008420	Punctate vertebral calcifications
HP:0008421	Tall lumbar vertebral bodies
HP:0008422	Vertebral wedging
HP:0008424	Hypoplastic 5th lumbar vertebrae
HP:0008428	Vertebral clefting
HP:0008430	Anterior beaking of lumbar vertebrae
HP:0008432	Anterior wedging of L1
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: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:0008460	Hypoplastic spinal processes
HP:0008462	Cervical instability
HP:0008463	Central vertebral hypoplasia
HP:0008467	Thoracic hemivertebrae
HP:0008469	Cervical vertebral dysplasia
HP:0008470	Lower thoracic interpediculate narrowness
HP:0008472	Prominent protruding coccyx
HP:0008475	Hypoplastic sacral vertebrae
HP:0008476	Irregular sclerotic endplates
HP:0008477	Poorly ossified cervical vertebrae
HP:0008478	Scheuermann-like vertebral changes
HP:0008482	Asymmetry of spinal facet joints
HP:0008484	Thoracolumbar interpediculate narrowness
HP:0008486	Lumbar interpedicular narrowing
HP:0008488	Anterior rounding of vertebral bodies
HP:0008494	Inferior lens subluxation
HP:0008496	Multiple rows of eyelashes
HP:0008497	Congenital craniofacial dysostosis
HP:0008498	No permanent dentition
HP:0008499	High hypermetropia
HP:0008501	Median cleft lip and palate
HP:0008504	Moderate sensorineural hearing impairment
HP:0008509	Aged leonine appearance
HP:0008513	Bilateral conductive hearing impairment
HP:0008516	Abnormality of the vertebral spinous processes
HP:0008517	Aplasia/Hypoplasia of the sacrum
HP:0008523	Posterior helix pit
HP:0008527	Congenital sensorineural hearing impairment
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: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: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:0008633	Agonadism
HP:0008635	Hypertrophy of the urinary bladder
HP:0008639	Gonadal hypoplasia
HP:0008640	Congenital macroorchidism
HP:0008643	Nephroblastomatosis
HP:0008652	Autonomic erectile dysfunction
HP:0008653	Crescentic glomerulonephritis
HP:0008655	Aplasia/Hypoplasia of the fallopian tube
HP:0008659	Multiple small medullary renal cysts
HP:0008660	Renotubular dysgenesis
HP:0008661	Urethral stenosis
HP:0008663	Renal sarcoma
HP:0008665	Clitoral hypertrophy
HP:0008668	Gonadal dysgenesis, male
HP:0008669	Abnormal spermatogenesis
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:0008696	Renal hamartoma
HP:0008697	Hypoplasia of the fallopian tube
HP:0008706	Distal urethral duplication
HP:0008707	Absent scrotum
HP:0008708	Partial development of the penile shaft
HP:0008714	Ureterovesical stenosis
HP:0008715	Testicular dysgenesis
HP:0008716	Urethrovaginal fistula
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: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:0008752	Laryngeal cartilage malformation
HP:0008753	Aplasia of the epiglottis
HP:0008754	Laryngeal calcification
HP:0008755	Laryngotracheomalacia
HP:0008756	Bowing of the vocal cords
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:0008772	Aplasia/Hypoplasia of the external ear
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:0008804	Broad femoral head
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:0008821	Hypoplastic inferior ilia
HP:0008822	Hypoplastic ischiopubic rami
HP:0008823	Hypoplastic inferior pubic rami
HP:0008824	Hypoplastic iliac body
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: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: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: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:0009016	Upper limb muscle hypoplasia
HP:0009017	Loss of gluteal subcutaneous adipose tissue
HP:0009020	Exercise-induced muscle fatigue
HP:0009023	Abdominal wall muscle weakness
HP:0009025	Increased connective tissue
HP:0009027	Foot dorsiflexor weakness
HP:0009028	Generalized weakness of limb muscles
HP:0009031	Amyotrophy of ankle musculature
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: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: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: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:0009119	Aplasia/Hypoplasia of the frontal sinuses
HP:0009121	Abnormal axial skeleton morphology
HP:0009124	Abnormal adipose tissue morphology
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	Abnormal cerebral artery morphology
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:0009185	Contracture of the proximal interphalangeal joint of the 5th finger
HP:0009193	Pseudoepiphyses of the metacarpals
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:0009279	Radial deviation of the 4th finger
HP:0009290	Short distal phalanx of the 4th finger
HP:0009295	Short middle phalanx of the 4th 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: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:0009439	Short 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:0009473	Joint contracture of the hand
HP:0009484	Deviation of the hand or of fingers 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: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:0009553	Abnormality of the hairline
HP:0009554	Projection of scalp hair onto lateral cheek
HP:0009555	Hypoplasia of the pharynx
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: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:0009602	Abnormality of thumb phalanx
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:0009617	Abnormality of the distal phalanx of the thumb
HP:0009618	Abnormality of the proximal phalanx of the thumb
HP:0009623	Proximal placement of thumb
HP:0009626	Contractures of the interphalangeal joint of the thumb
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:0009704	Chronic CSF lymphocytosis
HP:0009709	Increased CSF interferon alpha
HP:0009710	Chilblains
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: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 nerve glioma
HP:0009735	Spinal neurofibromas
HP:0009736	Tibial pseudoarthrosis
HP:0009737	Lisch nodules
HP:0009738	Abnormality 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:0009774	Triangular shaped 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: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:0009820	Lower limb peromelia
HP:0009821	Forearm undergrowth
HP:0009824	Upper limb undergrowth
HP:0009828	Peromelia
HP:0009829	Phocomelia
HP:0009830	Peripheral neuropathy
HP:0009831	Mononeuropathy
HP:0009832	Abnormal distal phalanx morphology of finger
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:0009875	Triangular shaped distal phalanges of the hand
HP:0009878	Cerebellar ataxia associated with quadrupedal gait
HP:0009879	Simplified gyral pattern
HP:0009880	Broad distal phalanges of all fingers
HP:0009881	Aplasia of the distal phalanges of the hand
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:0009895	Abnormality of the crus of the helix
HP:0009896	Abnormality of the antitragus
HP:0009899	Prominent crus of helix
HP:0009901	Crumpled ear
HP:0009902	Cleft helix
HP:0009904	Prominent ear helix
HP:0009906	Aplasia/Hypoplasia of the earlobes
HP:0009907	Attached earlobe
HP:0009908	Anterior creases of earlobe
HP:0009909	Uplifted earlobe
HP:0009911	Abnormal temporal bone morphology
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:0009921	Duane anomaly
HP:0009924	Aplasia/Hypoplasia involving the nose
HP:0009926	Epiphora
HP:0009927	Aplasia of the nose
HP:0009928	Thick nasal alae
HP:0009929	Abnormality of the columella
HP:0009931	Enlarged naris
HP:0009932	Single naris
HP:0009933	Narrow naris
HP:0009937	Facial hirsutism
HP:0009938	Sunken cheeks
HP:0009939	Mandibular aplasia
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:0009958	Polydactyly affecting the 3rd finger
HP:0009968	Partial duplication of the distal phalanx of the 3rd finger
HP:0009971	Polydactyly affecting the 4th finger
HP:0010001	Complete duplication of the distal phalanges of the hand
HP:0010013	Abnormality of the 5th metacarpal
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:0010047	Short 5th metacarpal
HP:0010048	Aplasia of metacarpal bones
HP:0010049	Short metacarpal
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:0010067	Aplasia/hypoplasia of the 1st metatarsal
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:0010093	Duplication of the proximal phalanx of the hallux
HP:0010097	Partial duplication of the distal phalanx of the hallux
HP:0010100	Complete duplication of hallux phalanx
HP:0010101	Partial duplication of the phalanges of the hallux
HP:0010102	Aplasia of the distal phalanx of the hallux
HP:0010103	Short distal phalanx of hallux
HP:0010104	Absent first metatarsal
HP:0010105	Short first metatarsal
HP:0010107	Short proximal phalanx of hallux
HP:0010109	Short hallux
HP:0010112	Mesoaxial foot polydactyly
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:0010185	Aplasia/Hypoplasia of the distal phalanges 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: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:0010282	Thin lower lip vermilion
HP:0010285	Oral synechia
HP:0010286	Abnormal salivary gland morphology
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:0010295	Aplasia/Hypoplasia of the tongue
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:0010314	Premature thelarche
HP:0010316	Ebstein anomaly of the tricuspid valve
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
HP:0010322	Abnormality of the 5th 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:0010347	Aplasia/Hypoplasia of the phalanges of the 2nd toe
HP:0010438	Abnormal ventricular septum morphology
HP:0010441	Ectopic accessory finger-like appendage
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:0010452	Ectopia of the spleen
HP:0010454	Acetabular spurs
HP:0010455	Steep acetabular roof
HP:0010458	Female pseudohermaphroditism
HP:0010459	True hermaphroditism
HP:0010460	Abnormality of the female genitalia
HP:0010463	Aplasia of the ovary
HP:0010464	Streak ovary
HP:0010468	Aplasia/Hypoplasia of the testes
HP:0010469	Absent testis
HP:0010471	Oligosacchariduria
HP:0010472	Abnormal circulating porphyrin concentration
HP:0010473	Porphyrinuria
HP:0010477	Aplasia of the bladder
HP:0010479	Patent urachus
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:0010490	Abnormality of the palmar creases
HP:0010493	Long metacarpals
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:0010505	Limitation of movement at ankles
HP:0010508	Metatarsus valgus
HP:0010509	Aplasia of the tarsal bones
HP:0010511	Long toe
HP:0010512	Adrenal calcification
HP:0010515	Aplasia/Hypoplasia of the thymus
HP:0010516	Thymus hyperplasia
HP:0010517	Ectopic thymus tissue
HP:0010521	Gait apraxia
HP:0010522	Dyslexia
HP:0010523	Alexia
HP:0010524	Agnosia
HP:0010525	Finger agnosia
HP:0010526	Dysgraphia
HP:0010527	Astereognosia
HP:0010529	Echolalia
HP:0010531	Spinal myoclonus
HP:0010532	Paroxysmal vertigo
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:0010549	Weakness due to upper motor neuron dysfunction
HP:0010550	Paraplegia
HP:0010551	Paraplegia/paraparesis
HP:0010553	Oculogyric crisis
HP:0010554	Cutaneous finger syndactyly
HP:0010557	Overlapping fingers
HP:0010558	Abnormality of the clivus
HP:0010559	Vertical clivus
HP:0010560	Undulate clavicles
HP:0010562	Keloids
HP:0010564	Bifid epiglottis
HP:0010566	Hamartoma
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:0010577	Absent 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:0010602	Type 2 muscle fiber predominance
HP:0010603	Odontogenic keratocysts of the jaw
HP:0010609	Skin tags
HP:0010610	Palmar pits
HP:0010612	Plantar pits
HP:0010614	Fibroma
HP:0010615	Angiofibromas
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:0010626	Anterior pituitary agenesis
HP:0010627	Anterior pituitary hypoplasia
HP:0010628	Facial palsy
HP:0010636	Schizencephaly
HP:0010639	Elevated alkaline phosphatase of bone origin
HP:0010644	Midnasal stenosis
HP:0010646	Cervical spine instability
HP:0010647	Abnormal elasticity of skin
HP:0010648	Dermal translucency
HP:0010649	Flat nasal alae
HP:0010650	Hypoplasia of the premaxilla
HP:0010652	Abnormal dura mater morphology
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:0010667	Aplasia of the maxilla
HP:0010668	Abnormality of the zygomatic bone
HP:0010669	Hypoplasia of the zygomatic bone
HP:0010675	Abnormal foot bone ossification
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:0010698	Nuclear pulverulent 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:0010733	Naevus flammeus of the eyelid
HP:0010735	Polyostotic fibrous dysplasia
HP:0010739	Osteopoikilosis
HP:0010740	Osteopathia striata
HP:0010741	Pedal edema
HP:0010743	Short metatarsal
HP:0010744	Absent metatarsal bone
HP:0010747	Medial flaring of the eyebrow
HP:0010749	Blepharochalasis
HP:0010751	Dimple chin
HP:0010752	Cleft mandible
HP:0010754	Abnormality of the temporomandibular joint
HP:0010759	Prominence of the premaxilla
HP:0010761	Broad columella
HP:0010762	Chordoma
HP:0010763	Low insertion of columella
HP:0010764	Short eyelashes
HP:0010765	Palmar hyperkeratosis
HP:0010766	Ectopic calcification
HP:0010769	Pilonidal sinus
HP:0010772	Anomalous pulmonary venous return
HP:0010773	Partial anomalous pulmonary venous return
HP:0010774	Cor triatriatum
HP:0010775	Vascular ring
HP:0010780	Hyperacusis
HP:0010781	Skin dimple
HP:0010782	Shoulder dimple
HP:0010783	Erythema
HP:0010784	Uterine neoplasm
HP:0010785	Gonadal neoplasm
HP:0010786	Urinary tract neoplasm
HP:0010788	Testicular neoplasm
HP:0010789	Abnormality of the Leydig cells
HP:0010791	Hyperplasia of the Leydig cells
HP:0010794	Impaired visuospatial constructive cognition
HP:0010799	Pinealoma
HP:0010800	Absent cupid's bow
HP:0010803	Everted upper lip vermilion
HP:0010804	Tented upper lip vermilion
HP:0010806	U-Shaped upper lip vermilion
HP:0010807	Open bite
HP:0010808	Protruding tongue
HP:0010809	Broad uvula
HP:0010812	Short 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:0010825	Abnormality of the eleventh cranial nerve
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:0010836	Abnormal circulating copper concentration
HP:0010837	Decreased serum ceruloplasmin
HP:0010838	High nonceruloplasmin-bound serum copper
HP:0010841	Multifocal epileptiform discharges
HP:0010844	EEG with multifocal slow activity
HP:0010845	EEG with generalized slow activity
HP:0010846	EEG with persistent abnormal rhythmic activity
HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)
HP:0010849	EEG with spike-wave complexes (>3.5 Hz)
HP:0010851	EEG with burst suppression
HP:0010852	EEG with photoparoxysmal response
HP:0010862	Delayed fine motor development
HP:0010863	Receptive language delay
HP:0010864	Intellectual disability, severe
HP:0010867	Dyssynergia
HP:0010871	Sensory ataxia
HP:0010872	T-wave inversion
HP:0010873	Cervical spinal cord atrophy
HP:0010874	Tendon xanthomatosis
HP:0010876	Abnormal circulating protein level
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:0010885	Avascular necrosis
HP:0010886	Osteochondritis Dissecans
HP:0010891	Morbus Scheuermann
HP:0010892	Abnormality of branched chain family amino acid metabolism
HP:0010895	Abnormal circulating glycine concentration
HP:0010896	Hypersarcosinemia
HP:0010897	Hypersarcosinuria
HP:0010900	Abnormal circulating threonine concentration
HP:0010901	Abnormal circulating methionine concentration
HP:0010903	Abnormal circulating glutamine concentration
HP:0010904	Abnormal circulating histidine concentration
HP:0010906	Hyperhistidinemia
HP:0010909	Abnormal circulating arginine concentration
HP:0010913	Hyperisoleucinemia
HP:0010917	Abnormal circulating tyrosine concentration
HP:0010919	Abnormality of homocysteine metabolism
HP:0010920	Zonular cataract
HP:0010922	Membranous cataract
HP:0010923	Anterior subcapsular cataract
HP:0010924	Posterior cortical cataract
HP:0010927	Abnormality of divalent inorganic cation homeostasis
HP:0010933	Hyperxanthinemia
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:0010943	Echogenic fetal bowel
HP:0010954	Hypoplastic right heart
HP:0010955	Dilatation of the bladder
HP:0010957	Congenital posterior urethral valve
HP:0010958	Bilateral renal agenesis
HP:0010959	Congenital cystic adenomatoid malformation of the lung
HP:0010965	Abnormal circulating phytanic acid level
HP:0010967	Abnormal circulating carnitine concentration
HP:0010972	Anemia of inadequate production
HP:0010976	B lymphocytopenia
HP:0010978	Abnormality of immune system physiology
HP:0010980	Hyperlipoproteinemia
HP:0010989	Abnormality of the intrinsic pathway
HP:0010990	Abnormality of the common coagulation pathway
HP:0010991	Abnormality of the abdominal musculature
HP:0010994	Abnormal corpus striatum morphology
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	High myopia
HP:0011013	Abnormality of carbohydrate metabolism/homeostasis
HP:0011020	Abnormality of mucopolysaccharide metabolism
HP:0011021	Abnormality of circulating enzyme level
HP:0011024	Abnormality of the gastrointestinal tract
HP:0011025	Abnormal cardiovascular system physiology
HP:0011026	Aplasia/Hypoplasia of the vagina
HP:0011027	Abnormality of the fallopian tube
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:0011039	Abnormality of the helix
HP:0011040	Abnormality of the intrahepatic bile duct
HP:0011042	Abnormality of potassium homeostasis
HP:0011043	Abnormality of circulating adrenocorticotropin level
HP:0011051	Agenesis of premolar
HP:0011054	Agenesis of molar
HP:0011060	Dentinogenesis imperfecta limited to primary teeth
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:0011084	Hypocalcification of dental enamel
HP:0011085	Hypomature dental enamel
HP:0011087	Talon cusp
HP:0011090	Fused teeth
HP:0011092	Mulberry molar
HP:0011094	Overbite
HP:0011096	Peripheral demyelination
HP:0011097	Epileptic spasms
HP:0011098	Speech apraxia
HP:0011099	Spastic hemiparesis
HP:0011100	Intestinal atresia
HP:0011103	Abnormal left ventricular outflow tract morphology
HP:0011105	Hypervolemia
HP:0011106	Hypovolemia
HP:0011107	Recurrent aphthous stomatitis
HP:0011108	Recurrent sinusitis
HP:0011109	Chronic sinusitis
HP:0011114	Defective production of NFKB1-dependent cytokines
HP:0011120	Concave nasal ridge
HP:0011121	Abnormality of skin morphology
HP:0011123	Inflammatory abnormality of the skin
HP:0011124	Abnormality of epidermal morphology
HP:0011127	Perioral eczema
HP:0011132	Chronic furunculosis
HP:0011133	Increased sensitivity to ionizing radiation
HP:0011134	Low-grade fever
HP:0011136	Aplasia of the sweat glands
HP:0011141	Age-related cataract
HP:0011142	Age-related nuclear cataract
HP:0011147	Typical absence seizures
HP:0011150	Myoclonic absence
HP:0011151	Obtundation status
HP:0011153	Focal motor seizure
HP:0011157	Focal sensory seizure
HP:0011158	Focal sensory auditory seizure
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:0011172	Complex febrile seizures
HP:0011185	EEG with focal epileptiform discharges
HP:0011188	Focal EEG discharges with secondary generalization
HP:0011193	EEG with focal spikes
HP:0011195	EEG with focal sharp slow waves
HP:0011198	EEG with generalized epileptiform discharges
HP:0011203	EEG with abnormally slow frequencies
HP:0011204	EEG with continuous slow activity
HP:0011219	Short face
HP:0011220	Prominent forehead
HP:0011221	Vertical forehead creases
HP:0011223	Metopic depression
HP:0011224	Ablepharon
HP:0011227	Elevated C-reactive protein level
HP:0011228	Horizontal eyebrow
HP:0011229	Broad eyebrow
HP:0011230	Laterally extended eyebrow
HP:0011231	Prominent eyelashes
HP:0011232	Infra-orbital fold
HP:0011246	Underdeveloped superior crus of antihelix
HP:0011247	Prominent superior crus of antihelix
HP:0011251	Underdeveloped antitragus
HP:0011255	Absent crus of helix
HP:0011265	Cleft earlobe
HP:0011266	Microtia, first degree
HP:0011267	Microtia, third degree
HP:0011268	Absent tragus
HP:0011271	Prominent 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:0011281	Abnormality of urine catecholamine concentration
HP:0011285	Long-segment aganglionic megacolon
HP:0011295	EEG with parietal sharp waves
HP:0011297	Abnormal digit morphology
HP:0011300	Broad fingertip
HP:0011302	Long palm
HP:0011304	Broad thumb
HP:0011305	Partial absence of toe
HP:0011308	Slender toe
HP:0011309	Tapered toe
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:0011326	Anterior plagiocephaly
HP:0011327	Posterior plagiocephaly
HP:0011328	Abnormality of fontanelles
HP:0011330	Metopic synostosis
HP:0011332	Hemifacial hypoplasia
HP:0011333	Asymmetric crying face
HP:0011335	Frontal hirsutism
HP:0011339	Abnormality of upper lip vermillion
HP:0011341	Long upper lip
HP:0011342	Mild global developmental delay
HP:0011343	Moderate global developmental delay
HP:0011344	Severe global developmental delay
HP:0011346	Mild expressive language delay
HP:0011347	Abnormality of ocular abduction
HP:0011349	Abducens palsy
HP:0011353	Arterial intimal fibrosis
HP:0011354	Generalized abnormality of skin
HP:0011355	Localized skin lesion
HP:0011356	Regional abnormality of skin
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:0011370	Recurrent cutaneous fungal infections
HP:0011372	Aplasia of the inner ear
HP:0011376	Morphological abnormality of the vestibule of the inner ear
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:0011386	Narrow internal auditory canal
HP:0011387	Enlarged vestibular aqueduct
HP:0011388	Enlarged cochlear aqueduct
HP:0011389	Functional abnormality of the inner ear
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:0011405	Childhood onset short-limb short stature
HP:0011406	Infancy onset short-trunk short stature
HP:0011409	Abnormality of placental membranes
HP:0011410	Caesarian section
HP:0011414	Hydropic placenta
HP:0011423	Hyperchloremia
HP:0011424	Increased serum zinc
HP:0011442	Abnormality of central motor function
HP:0011443	Abnormality of coordination
HP:0011446	Abnormality of higher mental function
HP:0011447	Hyposegmentation of neutrophil nuclei
HP:0011448	Ankle clonus
HP:0011449	Knee clonus
HP:0011451	Congenital microcephaly
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:0011469	Nasal regurgitation
HP:0011470	Nasogastric tube feeding in infancy
HP:0011471	Gastrostomy tube feeding in infancy
HP:0011472	Abnormality of small intestinal villus morphology
HP:0011473	Villous atrophy
HP:0011476	Profound sensorineural hearing impairment
HP:0011478	True anophthalmia
HP:0011480	Unilateral microphthalmos
HP:0011481	Abnormal lacrimal duct morphology
HP:0011483	Anterior synechiae of the anterior chamber
HP:0011484	Posterior synechiae of the anterior chamber
HP:0011487	Increased corneal thickness
HP:0011488	Abnormal corneal endothelium morphology
HP:0011490	Abnormal Descemet membrane morphology
HP:0011492	Abnormality of corneal stroma
HP:0011493	Central opacification of the cornea
HP:0011496	Corneal neovascularization
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
HP:0011507	Macular flecks
HP:0011509	Macular hyperpigmentation
HP:0011510	Drusen
HP:0011512	Hyperpigmentation of the fundus
HP:0011513	Retinal cavernous angioma
HP:0011516	Achromatopsia
HP:0011520	Deuteranomaly
HP:0011524	Iris melanoma
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:0011539	Atrial situs ambiguous
HP:0011560	Mitral atresia
HP:0011565	Common atrium
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:0011590	Double aortic arch
HP:0011599	Mesocardia
HP:0011611	Interrupted aortic arch
HP:0011622	Inlet ventricular septal defect
HP:0011623	Muscular ventricular septal defect
HP:0011626	Scimitar anomaly
HP:0011628	Congenital defect of the pericardium
HP:0011645	Dilatation of the sinus of Valsalva
HP:0011648	Patent ductus arteriosus after birth at term
HP:0011662	Tricuspid atresia
HP:0011663	Right ventricular cardiomyopathy
HP:0011664	Left ventricular noncompaction cardiomyopathy
HP:0011671	Interrupted inferior vena cava with azygous continuation
HP:0011672	Cardiac myxoma
HP:0011675	Arrhythmia
HP:0011682	Perimembranous ventricular septal defect
HP:0011695	Cerebellar hemorrhage
HP:0011702	Abnormal electrophysiology of sinoatrial node origin
HP:0011703	Sinus tachycardia
HP:0011704	Sick sinus syndrome
HP:0011705	First degree atrioventricular block
HP:0011706	Second degree atrioventricular block
HP:0011710	Bundle branch block
HP:0011711	Left anterior fascicular block
HP:0011712	Right bundle branch block
HP:0011713	Left bundle branch block
HP:0011715	Trifascicular block
HP:0011718	Abnormality of the pulmonary veins
HP:0011727	Peroneal muscle weakness
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-suppressible primary hyperaldosteronism
HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism
HP:0011742	Ectopic adrenal gland
HP:0011743	Adrenal gland agenesis
HP:0011746	Secretory adrenocortical adenoma
HP:0011748	Adrenocorticotropic hormone deficiency
HP:0011749	Adrenocorticotropic hormone excess
HP:0011750	Neoplasm of the anterior pituitary
HP:0011752	Neoplasm of the posterior pituitary
HP:0011755	Ectopic posterior pituitary
HP:0011760	Pituitary growth hormone cell adenoma
HP:0011761	Pituitary null cell adenoma
HP:0011781	Thyroid C cell hyperplasia
HP:0011784	Thyrotoxicosis with diffuse goiter
HP:0011787	Central hypothyroidism
HP:0011788	Increased circulating free T3
HP:0011790	Activating thyroid-stimulating hormone receptor defect
HP:0011800	Midface retrusion
HP:0011801	Enlargement of parotid gland
HP:0011802	Hamartoma of tongue
HP:0011803	Bifid nose
HP:0011805	Abnormal muscle morphology
HP:0011807	Type 1 muscle fiber atrophy
HP:0011808	Decreased patellar reflex
HP:0011809	Paradoxical myotonia
HP:0011812	Agraphesthesia
HP:0011813	Increased cerebral lipofuscin
HP:0011814	Increased urinary hypoxanthine
HP:0011817	Basal encephalocele
HP:0011819	Submucous cleft soft palate
HP:0011822	Broad chin
HP:0011823	Chin with horizontal crease
HP:0011824	Chin with H-shaped crease
HP:0011830	Abnormal oral mucosa morphology
HP:0011832	Narrow nasal tip
HP:0011833	Overhanging nasal tip
HP:0011834	Moyamoya phenomenon
HP:0011837	Partial IgA deficiency
HP:0011838	Sclerodactyly
HP:0011840	Abnormality of T cell physiology
HP:0011842	Abnormality of skeletal morphology
HP:0011843	Abnormality of skeletal physiology
HP:0011844	Abnormal appendicular skeleton morphology
HP:0011847	Giant cell tumor of bone
HP:0011848	Abdominal colic
HP:0011849	Abnormal bone ossification
HP:0011850	Parotitis
HP:0011852	Chylopericardium
HP:0011854	Hemoperitoneum
HP:0011855	Pharyngeal edema
HP:0011856	Pica
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:0011869	Abnormal platelet function
HP:0011871	Impaired ristocetin-induced platelet aggregation
HP:0011872	Impaired thrombin-induced platelet aggregation
HP:0011875	Abnormal platelet morphology
HP:0011877	Increased mean platelet volume
HP:0011879	Decreased platelet glycoprotein Ib-IX-V
HP:0011883	Abnormal platelet granules
HP:0011884	Abnormal umbilical stump bleeding
HP:0011886	Hyphema
HP:0011887	Choroid hemorrhage
HP:0011889	Bleeding with minor or no trauma
HP:0011890	Prolonged bleeding following procedure
HP:0011891	Post-partum hemorrhage
HP:0011892	Low levels of vitamin K
HP:0011897	Neutrophilia
HP:0011900	Hypofibrinogenemia
HP:0011902	Abnormal hemoglobin
HP:0011903	HbH hemoglobin
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:0011916	Toe extensor amyotrophy
HP:0011917	Short 5th toe
HP:0011918	Clinodactyly of the 4th toe
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:0011929	Hypersegmentation of proximal phalanx of third finger
HP:0011931	Abnormality of the cerebellar peduncle
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:0011949	Acute infectious pneumonia
HP:0011950	Bronchiolitis
HP:0011951	Aspiration pneumonia
HP:0011960	Substantia nigra gliosis
HP:0011961	Non-obstructive azoospermia
HP:0011962	Obstructive azoospermia
HP:0011964	Intermittent painful muscle spasms
HP:0011965	Abnormal circulating citrulline concentration
HP:0011966	Elevated plasma citrulline
HP:0011967	Decreased circulating copper concentration
HP:0011968	Feeding difficulties
HP:0011969	Elevated circulating luteinizing hormone level
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: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:0011991	Abnormal neutrophil count
HP:0011992	Abnormality of neutrophil morphology
HP:0011993	Impaired neutrophil bactericidal activity
HP:0011995	Atrial septal dilatation
HP:0011996	Elevated coagulation factor V activity
HP:0011998	Postprandial hyperglycemia
HP:0011999	Paranoia
HP:0012001	EEG with generalized polyspikes
HP:0012012	EEG with parietal focal spike waves
HP:0012018	EEG with temporal focal spikes
HP:0012019	Lens luxation
HP:0012020	Right aortic arch
HP:0012023	Galactosuria
HP:0012024	Hypergalactosemia
HP:0012026	Hyperornithinemia
HP:0012027	Laryngeal edema
HP:0012028	Hepatocellular adenoma
HP:0012030	Increased urinary cortisol level
HP:0012032	Lipoma
HP:0012033	Sacral lipoma
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:0012044	Seesaw 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:0012059	Lentigo maligna melanoma
HP:0012060	Acral lentiginous melanoma
HP:0012061	Urinary excretion of sialylated oligosaccharides
HP:0012062	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	Abnormal circulating acetylcarnitine concentration
HP:0012072	Aciduria
HP:0012074	Tonic pupil
HP:0012075	Personality disorder
HP:0012076	Borderline personality disorder
HP:0012079	Abnormality of central motor conduction
HP:0012081	Enlarged cerebellum
HP:0012082	Cerebellar Purkinje layer atrophy
HP:0012083	Ubiquitin-positive cerebral inclusion bodies
HP:0012084	Abnormality of skeletal muscle fiber size
HP:0012086	Abnormal urinary color
HP:0012087	Abnormal mitochondrial shape
HP:0012090	Abnormal pancreas morphology
HP:0012091	Abnormality of pancreas physiology
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:0012104	Parietal cortical atrophy
HP:0012106	Rhizomelic leg shortening
HP:0012107	Increased fibular diameter
HP:0012108	Open angle glaucoma
HP:0012109	Angle closure glaucoma
HP:0012110	Hypoplasia of the pons
HP:0012112	Abnormal circulating corticosterone level
HP:0012113	Abnormal circulating creatine concentration
HP:0012114	Endometrial carcinoma
HP:0012115	Hepatitis
HP:0012116	Abnormal albumin level
HP:0012118	Laryngeal carcinoma
HP:0012119	Methemoglobinemia
HP:0012120	Methylmalonic aciduria
HP:0012122	Anterior uveitis
HP:0012123	Posterior uveitis
HP:0012125	Prostate cancer
HP:0012126	Stomach cancer
HP:0012129	Abnormality of bone marrow stromal cells
HP:0012130	Abnormal erythroid lineage cell morphology
HP:0012132	Erythroid hyperplasia
HP:0012133	Erythroid hypoplasia
HP:0012134	Dysplastic erythropoesis
HP:0012135	Abnormal granulocytopoietic cell morphology
HP:0012136	Dysplastic granulopoesis
HP:0012137	Abnormal number of granulocyte precursors
HP:0012139	Granulocytic hypoplasia
HP:0012142	Pancreatic squamous cell carcinoma
HP:0012143	Abnormal megakaryocyte morphology
HP:0012145	Abnormality of multiple cell lineages in the bone marrow
HP:0012147	Reduced quantity of Von Willebrand factor
HP:0012148	Multiple lineage myelodysplasia
HP:0012150	Single lineage myelodysplasia
HP:0012151	Hemothorax
HP:0012152	Foveoschisis
HP:0012153	Hypotriglyceridemia
HP:0012155	Decreased corneal sensation
HP:0012156	Hemophagocytosis
HP:0012157	Subcortical cerebral atrophy
HP:0012163	Carotid artery dilatation
HP:0012165	Oligodactyly
HP:0012167	Hair-pulling
HP:0012168	Head-banging
HP:0012169	Self-biting
HP:0012171	Stereotypical hand wringing
HP:0012172	Stereotypical body rocking
HP:0012173	Orthostatic tachycardia
HP:0012174	Glioblastoma multiforme
HP:0012175	Resistance to activated protein C
HP:0012176	Abnormal natural killer cell morphology
HP:0012177	Abnormal natural killer cell physiology
HP:0012178	Reduced natural killer cell activity
HP:0012179	Craniofacial dystonia
HP:0012180	Cystic medial necrosis
HP:0012182	Oropharyngeal squamous cell carcinoma
HP:0012183	Hyperplastic colonic polyposis
HP:0012184	Increased HDL cholesterol concentration
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:0012197	Insulinoma
HP:0012198	Juvenile colonic polyposis
HP:0012199	Cluster headache
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:0012218	Alveolar soft part sarcoma
HP:0012219	Erythema nodosum
HP:0012221	Pretibial blistering
HP:0012222	Arachnoid hemangiomatosis
HP:0012223	Splenic rupture
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	Increased circulating chylomicron concentration
HP:0012239	Atransferrinemia
HP:0012240	Increased intramyocellular lipid droplets
HP:0012241	Levator palpebrae superioris atrophy
HP:0012242	Superior rectus atrophy
HP:0012243	Abnormal reproductive system morphology
HP:0012244	Abnormal sex determination
HP:0012245	Sex reversal
HP:0012246	Oculomotor nerve palsy
HP:0012248	Prolonged PR interval
HP:0012250	ST segment depression
HP:0012251	ST segment elevation
HP:0012252	Abnormal respiratory system morphology
HP:0012254	Ewing 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:0012270	Decreased muscle glycogen content
HP:0012271	Episodic upper airway obstruction
HP:0012272	J wave
HP:0012276	Digital flexor tenosynovitis
HP:0012277	Hypoglycinemia
HP:0012278	Abnormal circulating serine concentration
HP:0012279	Hyposerinemia
HP:0012280	Hepatic amyloidosis
HP:0012282	Morbilliform rash
HP:0012283	Small distal femoral epiphysis
HP:0012284	Small proximal tibial epiphyses
HP:0012285	Abnormal hypothalamus physiology
HP:0012286	Abnormal hypothalamus morphology
HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency
HP:0012288	Neoplasm of head and neck
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:0012301	Type II transferrin isoform profile
HP:0012302	Herpes simplex encephalitis
HP:0012303	Abnormal aortic arch morphology
HP:0012304	Hypoplastic 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:0012318	Occipital neuralgia
HP:0012321	D-2-hydroxyglutaric aciduria
HP:0012322	Perifolliculitis
HP:0012324	Myeloid leukemia
HP:0012325	Chronic myelomonocytic leukemia
HP:0012329	Tufted angioma
HP:0012330	Pyelonephritis
HP:0012332	Abnormal autonomic nervous system physiology
HP:0012334	Extrahepatic cholestasis
HP:0012340	Decreased resting energy expenditure
HP:0012343	Decreased serum ferritin
HP:0012345	Abnormal glycosylation
HP:0012347	Abnormal protein N-linked glycosylation
HP:0012358	Abnormal protein O-linked glycosylation
HP:0012363	Decreased sialylation of O-linked protein glycosylation
HP:0012364	Decreased urinary potassium
HP:0012366	Basilar invagination
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:0012376	Microphakia
HP:0012377	Hemianopia
HP:0012378	Fatigue
HP:0012379	Abnormal enzyme/coenzyme activity
HP:0012384	Rhinitis
HP:0012385	Camptodactyly
HP:0012387	Bronchitis
HP:0012389	Appendicular hypotonia
HP:0012391	Hyporeflexia of upper limbs
HP:0012393	Allergy
HP:0012397	Aortic atherosclerotic lesion
HP:0012398	Peripheral edema
HP:0012400	Abnormal aldolase level
HP:0012401	Abnormal urine alpha-ketoglutarate concentration
HP:0012402	Increased 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:0012415	Abnormal blood gas level
HP:0012416	Hypercapnia
HP:0012418	Hypoxemia
HP:0012426	Optic disc drusen
HP:0012427	Excessive femoral anteversion
HP:0012428	Prominent calcaneus
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter
HP:0012430	Cerebral white matter hypoplasia
HP:0012432	Chronic fatigue
HP:0012434	Delayed social development
HP:0012440	Abnormal biliary tract morphology
HP:0012443	Abnormality of brain morphology
HP:0012444	Brain atrophy
HP:0012447	Abnormal myelination
HP:0012448	Delayed myelination
HP:0012450	Chronic constipation
HP:0012452	Restless legs
HP:0012457	Medial calcification of medium-sized arteries
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:0012476	Specific pneumococcal antibody deficiency
HP:0012477	Vocal tremor
HP:0012478	Temporomandibular joint ankylosis
HP:0012489	Suprasellar arachnoid cyst
HP:0012490	Panniculitis
HP:0012492	Cerebral artery stenosis
HP:0012496	Reduced maximal inspiratory pressure
HP:0012499	Descending aortic dissection
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:0012509	Reduced thyroxin-binding globulin
HP:0012510	Extra-axial cerebrospinal fluid accumulation
HP:0012511	Temporal optic disc pallor
HP:0012513	Upper limb pain
HP:0012514	Lower limb pain
HP:0012515	Hip flexor weakness
HP:0012516	Tetralogy of Fallot with pulmonary atresia
HP:0012517	Reduced catalase activity
HP:0012518	Abnormal circle of Willis morphology
HP:0012520	Perivascular spaces
HP:0012521	Optic nerve aplasia
HP:0012522	Spider hemangioma
HP:0012523	Oral aversion
HP:0012526	Absence of alpha granules
HP:0012527	Abnormal alpha granule content
HP:0012529	Abnormal dense granule content
HP:0012531	Pain
HP:0012532	Chronic pain
HP:0012534	Dysesthesia
HP:0012537	Food intolerance
HP:0012539	Non-Hodgkin lymphoma
HP:0012541	Cephalohematoma
HP:0012542	Onychauxis
HP:0012543	Hemosiderinuria
HP:0012544	Elevated aldolase level
HP:0012545	Reduced aldolase level
HP:0012547	Abnormal involuntary eye movements
HP:0012548	Fatty replacement of skeletal muscle
HP:0012551	Absent neutrophil specific granules
HP:0012553	Hypoplastic thumbnail
HP:0012554	Absent thumbnail
HP:0012555	Absent nail of hallux
HP:0012557	EEG with centrotemporal focal spike waves
HP:0012559	Increased T3/T4 ratio
HP:0012560	Decreased T3/T4 ratio
HP:0012569	Delayed menarche
HP:0012574	Mesangial hypercellularity
HP:0012577	Thin glomerular basement membrane
HP:0012578	Membranous nephropathy
HP:0012579	Minimal change glomerulonephritis
HP:0012582	Bilateral renal dysplasia
HP:0012584	Bilateral renal hypoplasia
HP:0012587	Macroscopic hematuria
HP:0012588	Steroid-resistant nephrotic syndrome
HP:0012592	Albuminuria
HP:0012593	Nephrotic range proteinuria
HP:0012594	Microalbuminuria
HP:0012595	Mild proteinuria
HP:0012597	Heavy proteinuria
HP:0012598	Abnormal urine potassium concentration
HP:0012605	Hypernatriuria
HP:0012606	Renal sodium wasting
HP:0012608	Hypermagnesiuria
HP:0012611	Increased urinary urate
HP:0012618	Urachal cyst
HP:0012622	Chronic kidney disease
HP:0012629	Phakodonesis
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:0012642	Cerebellar agenesis
HP:0012643	Foveal hypopigmentation
HP:0012645	Enlarged peripheral nerve
HP:0012647	Abnormal inflammatory response
HP:0012649	Increased inflammatory response
HP:0012650	Perisylvian polymicrogyria
HP:0012658	Abnormal brain FDG positron emission tomography
HP:0012662	Parietal hypometabolism in FDG PET
HP:0012664	Reduced ejection fraction
HP:0012670	Orthostatic syncope
HP:0012671	Abulia
HP:0012672	Akinetic mutism
HP:0012675	Iron accumulation in brain
HP:0012677	Iron accumulation in globus pallidus
HP:0012678	Iron accumulation in substantia nigra
HP:0012683	Pineal cyst
HP:0012687	Agenesis of pineal gland
HP:0012691	Focal T2 hypointense thalamic lesion
HP:0012695	Decreased thalamic volume
HP:0012696	Abnormal thalamic MRI signal intensity
HP:0012697	Small basal ganglia
HP:0012701	Bowel urgency
HP:0012702	Tenesmus
HP:0012704	Widened subarachnoid space
HP:0012705	Abnormal metabolic brain imaging by MRS
HP:0012706	Elevated brain choline level by MRS
HP:0012707	Elevated brain lactate level by MRS
HP:0012708	Reduced brain N-acetyl aspartate level by MRS
HP:0012712	Mild hearing impairment
HP:0012715	Profound 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	Thoracic aortic aneurysm
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:0012738	Agenesis of canine
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:0012748	Focal T2 hyperintense brainstem lesion
HP:0012749	Focal T2 hypointense brainstem lesion
HP:0012751	Abnormal basal ganglia MRI signal intensity
HP:0012752	Focal T2 hypointense basal ganglia lesion
HP:0012757	Abnormal neuron morphology
HP:0012758	Neurodevelopmental delay
HP:0012759	Neurodevelopmental abnormality
HP:0012760	Impaired social reciprocity
HP:0012762	Cerebral white matter atrophy
HP:0012763	Paroxysmal dyspnea
HP:0012764	Orthopnea
HP:0012768	Neonatal asphyxia
HP:0012771	Increased arm span
HP:0012774	Increased upper to lower segment ratio
HP:0012785	Flexion contracture of finger
HP:0012786	Recurrent cystitis
HP:0012787	Recurrent pyelonephritis
HP:0012788	Reticulate pigmentation of oral mucosa
HP:0012789	Hypoplasia of the calcaneus
HP:0012793	Kinked brainstem
HP:0012795	Abnormality of the optic disc
HP:0012796	Increased cup-to-disc ratio
HP:0012798	Pulmonary lymphangiomyomatosis
HP:0012801	Narrow jaw
HP:0012802	Broad jaw
HP:0012803	Anisometropia
HP:0012804	Corneal ulceration
HP:0012805	Iris transillumination defect
HP:0012806	Proboscis
HP:0012809	Narrow nasal base
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:0012844	Trichilemmoma
HP:0012847	Epilepsia partialis continua
HP:0012850	Small intestinal dysmotility
HP:0012854	Midshaft hypospadias
HP:0012856	Abnormal scrotal rugation
HP:0012861	Ovotestis
HP:0012863	Abnormal male germ cell morphology
HP:0012864	Abnormal sperm morphology
HP:0012865	Sperm head anomaly
HP:0012867	Sperm mid-piece anomaly
HP:0012868	Sperm tail anomaly
HP:0012869	Acephalic spermatozoa
HP:0012870	Vanishing testis
HP:0012871	Varicocele
HP:0012873	Absent vas deferens
HP:0012877	Retrograde ejaculation
HP:0012881	Abnormality of the labia majora
HP:0012882	Hyperplastic labia majora
HP:0012886	Hemorrhagic ovarian cyst
HP:0012887	Ovarian serous cystadenoma
HP:0012890	Posteriorly placed anus
HP:0012892	Facial muscle hypertrophy
HP:0012896	Abnormal motor evoked potentials
HP:0012898	Abnormal lower-limb motor evoked potentials
HP:0012899	Handgrip myotonia
HP:0012900	Myotonia of the face
HP:0012901	Myotonia of the jaw
HP:0012903	Myotonia of the upper limb
HP:0012904	Cold-sensitive myotonia
HP:0012905	Euryblepharon
HP:0020006	Ciliary body coloboma
HP:0020036	Upper limb dysmetria
HP:0020038	Vertebrobasilar dolichoectasia
HP:0020045	Esodeviation
HP:0020046	Accommodative esotropia
HP:0020049	Exodeviation
HP:0020062	Decreased hemoglobin concentration
HP:0020072	Persistent EBV viremia
HP:0020073	Hypopigmented macule
HP:0020081	Pappenheimer bodies
HP:0020088	Post-vaccination measles
HP:0025010	Foveal atrophy
HP:0025011	Pyriform aperture stenosis
HP:0025012	Status cribrosum
HP:0025013	Decerebrate rigidity
HP:0025014	Subcutaneous spheroids
HP:0025019	Arterial rupture
HP:0025023	Rectal atresia
HP:0025025	Rectovestibular fistula
HP:0025027	Osteoma cutis
HP:0025035	Abnormal proerythroblast morphology
HP:0025040	Thalamic edema
HP:0025043	Enlarged mesenteric lymph node
HP:0025045	Abnormal brain lactate level by MRS
HP:0025051	Reduced brain creatine level by MRS
HP:0025065	Abnormal mean corpuscular volume
HP:0025066	Decreased mean corpuscular volume
HP:0025072	Prominent U wave
HP:0025080	Orthokeratotic hyperkeratosis
HP:0025084	Folliculitis
HP:0025085	Bloody diarrhea
HP:0025092	Epidermal acanthosis
HP:0025095	Sneeze
HP:0025097	Eyelid myoclonus
HP:0025099	Dysgenesis of the thalamus
HP:0025100	Abnormal morphology of the hippocampus
HP:0025101	Dysgenesis of the hippocampus
HP:0025104	Capillary malformation
HP:0025107	Cutis marmorata telangiectatica congenita
HP:0025109	Reduced red cell pyruvate kinase activity
HP:0025114	Hypergranulosis
HP:0025115	Civatte bodies
HP:0025116	Fetal distress
HP:0025121	Simple partial occipital seizures
HP:0025124	Fragile teeth
HP:0025128	Reduced intraabdominal adipose tissue
HP:0025130	Decreased small intestinal mucosa lactase activity
HP:0025131	Finger swelling
HP:0025134	Increased serum estradiol
HP:0025142	Constitutional symptom
HP:0025143	Chills
HP:0025144	Shivering
HP:0025145	Rigors
HP:0025147	Beaten bronze macular sheen
HP:0025148	Dark choroid
HP:0025149	Atrophic muscularis propria
HP:0025152	Poor visual behavior for age
HP:0025156	Dependency on intravenous nutrition
HP:0025157	Increased urinary sedoheptulose
HP:0025167	Fragmented elastic fibers in the dermis
HP:0025169	Left ventricular systolic dysfunction
HP:0025175	Honeycomb lung
HP:0025179	Ground-glass opacification on pulmonary HRCT
HP:0025191	Segmental myoclonic seizures
HP:0025196	Increased total iron binding capacity
HP:0025201	Abnormal apolipoprotein level
HP:0025230	Tendonitis
HP:0025232	Bursitis
HP:0025234	Parasomnia
HP:0025238	Foot pain
HP:0025244	Subretinal pigment epithelium hemorrhage
HP:0025247	Dermoid cyst
HP:0025249	Comedo
HP:0025252	Geographic tongue
HP:0025258	Stiff neck
HP:0025259	Stiff elbow
HP:0025262	Stiff hip
HP:0025267	Snoring
HP:0025268	Stuttering
HP:0025269	Panic attack
HP:0025270	Abnormality of esophagus physiology
HP:0025274	Ovarian dermoid cyst
HP:0025289	Cervical lymphadenopathy
HP:0025300	Malar rash
HP:0025312	Esophoria
HP:0025313	Exophoria
HP:0025318	Ovarian carcinoma
HP:0025321	Copper accumulation in liver
HP:0025324	Arterial occlusion
HP:0025326	Retinal arterial occlusion
HP:0025328	Antepartum hemorrhage
HP:0025331	Upgaze palsy
HP:0025336	Delayed ability to sit
HP:0025343	Lupus anticoagulant
HP:0025347	Decreased circulating beta-2-microglobulin level
HP:0025348	Abnormality of the corneal limbus
HP:0025349	Limbal edema
HP:0025354	Abnormal cellular phenotype
HP:0025355	Retinal arterial macroaneurysms
HP:0025356	Psychomotor retardation
HP:0025357	Erratic myoclonus
HP:0025358	Uveal ectropion
HP:0025379	Anti-thyroid peroxidase antibody positivity
HP:0025383	Dorsocervical fat pad
HP:0025388	Thyroid nodule
HP:0025390	Reticular pattern on pulmonary HRCT
HP:0025391	Crazy paving pattern on pulmonary HRCT
HP:0025401	Staring gaze
HP:0025403	Stooped posture
HP:0025404	Abnormal visual fixation
HP:0025405	Visual fixation instability
HP:0025406	Asthenia
HP:0025420	Diffuse alveolar hemorrhage
HP:0025425	Laryngospasm
HP:0025427	Abnormal bronchus physiology
HP:0025428	Bronchospasm
HP:0025430	High-pitched cry
HP:0025431	Staccato cry
HP:0025435	Increased lactate dehydrogenase activity
HP:0025439	Pharyngitis
HP:0025451	Testicular adrenal rest tumor
HP:0025452	Pyoderma gangrenosum
HP:0025455	Decreased CSF 5-hydroxyindolacetic acid
HP:0025458	Decreased CSF albumin concentration
HP:0025460	High myoinositol in brain by MRS
HP:0025461	Abnormal cell morphology
HP:0025474	Erythematous plaque
HP:0025477	Periarticular calcification
HP:0025478	Atrial standstill
HP:0025487	Abnormality of bladder morphology
HP:0025488	Detrusor sphincter dyssynergia
HP:0025492	Microcoria
HP:0025498	Aceruloplasminemia
HP:0025502	Overweight
HP:0025507	Yellow papule
HP:0025510	Nevus spilus
HP:0025514	Morning glory anomaly
HP:0025515	Delayed thelarche
HP:0025517	Hypoplastic hippocampus
HP:0025520	Calcinosis cutis
HP:0025524	Palmoplantar scaling skin
HP:0025533	Peau d'orange
HP:0025548	Increased mean corpuscular hemoglobin concentration
HP:0025550	Elevated circulating ribitol concentration
HP:0025551	Optic nerve misrouting
HP:0025573	Mild myopia
HP:0025574	Macular hemorrhage
HP:0025584	Hypotropia
HP:0025586	Hypertropia
HP:0025605	Lid lag on downgaze
HP:0025608	Cicatricial ectropion
HP:0025610	Posterior blepharitis
HP:0025612	Corneal astigmatism
HP:0030001	Lagopthalmos
HP:0030005	Capillary leak
HP:0030007	EMG: positive sharp waves
HP:0030009	Cervical insufficiency
HP:0030010	Hydrometrocolpos
HP:0030011	Imperforate hymen
HP:0030014	Female sexual dysfunction
HP:0030016	Dyspareunia
HP:0030018	Decreased female libido
HP:0030019	Increased female libido
HP:0030021	Auricular tag
HP:0030022	Question mark ear
HP:0030033	Small finger
HP:0030034	Diffuse glomerular basement membrane lamellation
HP:0030036	Isothenuria
HP:0030037	Bifid ureter
HP:0030038	Enchondroma
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:0030056	Uncombable hair
HP:0030057	Autoimmune antibody positivity
HP:0030059	Mitochondrial depletion
HP:0030062	Craniopharyngioma
HP:0030071	Medulloepithelioma
HP:0030074	Chemodectoma
HP:0030075	Ductal carcinoma in situ
HP:0030078	Lung adenocarcinoma
HP:0030079	Cervix cancer
HP:0030080	Burkitt lymphoma
HP:0030081	Punctate periventricular T2 hyperintense foci
HP:0030083	Salt craving
HP:0030084	Clinodactyly
HP:0030085	Abnormal CSF lactate level
HP:0030087	Abnormal serum testosterone level
HP:0030088	Increased serum testosterone level
HP:0030089	Abnormal muscle fiber protein expression
HP:0030091	Absent muscle fiber merosin
HP:0030092	Reduced muscle fiber merosin
HP:0030095	Reduced muscle collagen VI
HP:0030099	Reduced muscle fiber alpha dystroglycan
HP:0030114	Absent muscle fiber dysferlin
HP:0030117	Absent muscle fiber emerin
HP:0030127	Endometriosis
HP:0030137	Prolonged bleeding following circumcision
HP:0030138	Excessive bleeding from superficial cuts
HP:0030140	Oral cavity bleeding
HP:0030143	Hyperactive bowel sounds
HP:0030146	Abnormal liver parenchyma morphology
HP:0030147	Truncal titubation
HP:0030148	Heart murmur
HP:0030149	Cardiogenic shock
HP:0030151	Cholangitis
HP:0030157	Flank pain
HP:0030160	Cervicitis
HP:0030166	Night sweats
HP:0030182	Tetraplegia/tetraparesis
HP:0030183	Impaired visually enhanced vestibulo-ocular reflex
HP:0030186	Kinetic tremor
HP:0030187	Titubation
HP:0030188	Tremor by anatomical site
HP:0030190	Oral motor hypotonia
HP:0030191	Abnormal peripheral nervous system synaptic transmission
HP:0030192	Fatigable weakness of bulbar muscles
HP:0030195	Fatigable weakness of swallowing muscles
HP:0030196	Fatigable weakness of respiratory muscles
HP:0030197	Fatigable weakness of skeletal muscles
HP:0030198	Fatigable weakness of distal limb muscles
HP:0030199	Fatigable weakness of neck muscles
HP:0030200	Fatiguable weakness of proximal limb muscles
HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors
HP:0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
HP:0030205	Increased jitter at single fibre EMG
HP:0030211	Slow pupillary light response
HP:0030212	Collectionism
HP:0030213	Emotional blunting
HP:0030214	Hypersexuality
HP:0030215	Inappropriate crying
HP:0030216	Inertia
HP:0030218	Punding
HP:0030219	Semantic dementia
HP:0030222	Visual agnosia
HP:0030223	Perseveration
HP:0030225	Accumulation of muscle fiber desmin
HP:0030226	Abnormal muscle fiber myotilin
HP:0030230	Central core regions in muscle fibers
HP:0030234	Highly elevated creatine kinase
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:0030248	Mesenteric venous thrombosis
HP:0030253	Defective T cell proliferation
HP:0030255	Large intestinal polyposis
HP:0030256	Small intestinal polyposis
HP:0030258	Hyperpigmented genitalia
HP:0030260	Microphallus
HP:0030265	Wide 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:0030276	Small scrotum
HP:0030280	Rib gap
HP:0030281	Cervical C3/C4 vertebral fusion
HP:0030282	Posterior rib gap
HP:0030284	Triangular tongue
HP:0030290	Unossified sacrum
HP:0030292	Tibial metaphyseal irregularity
HP:0030302	Agenesis of the anterior commissure
HP:0030312	Obliteration of the calvarial diploe
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:0030339	Decreased circulating gonadotropin level
HP:0030341	Decreased circulating follicle stimulating hormone level
HP:0030344	Decreased circulating luteinizing hormone level
HP:0030346	Abnormal circulating follicle-stimulating hormone level
HP:0030348	Increased circulating androgen level
HP:0030349	Decreased circulating androgen level
HP:0030350	Erythematous papule
HP:0030351	Urticarial plaque
HP:0030353	Decreased serum insulin-like growth factor 1
HP:0030355	Abnormal serum interferon-gamma level
HP:0030356	Increased serum interferon-gamma level
HP:0030362	Reduced muscle carnitine level
HP:0030368	Hyperphalangy of the 2nd finger
HP:0030369	Induced vaginal delivery
HP:0030374	Decreased proportion of memory B cells
HP:0030381	Increased proportion of transitional B cells
HP:0030388	Decreased proportion of class-switched memory B cells
HP:0030390	Reduced circulating leukotriene C4 concentration
HP:0030391	Spoken Word Recognition Deficit
HP:0030392	Choroid plexus carcinoma
HP:0030404	Glucagonoma
HP:0030406	Primary peritoneal carcinoma
HP:0030410	Sebaceous gland carcinoma
HP:0030417	Squamous cell carcinoma of the vulva
HP:0030423	Splenic cyst
HP:0030424	Epididymal cyst
HP:0030430	Neuroma
HP:0030431	Osteochondroma
HP:0030434	Pilomatrixoma
HP:0030436	Fibrofolliculoma
HP:0030445	Pulmonary carcinoid tumor
HP:0030448	Soft tissue sarcoma
HP:0030454	Abnormal electrooculogram
HP:0030468	Abnormal multifocal electroretinogram
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
HP:0030490	Exudative vitreoretinopathy
HP:0030491	Choriocapillaris atrophy
HP:0030499	Macular drusen
HP:0030500	Yellow/white lesions of the macula
HP:0030502	Retinoschisis
HP:0030506	Yellow/white lesions of the retina
HP:0030507	Retinal crystals
HP:0030511	Bradyopsia
HP:0030513	Difficulty adjusting from light to dark
HP:0030515	Moderately reduced visual acuity
HP:0030521	Bitemporal hemianopia
HP:0030528	Paracentral scotoma
HP:0030529	Ring scotoma
HP:0030532	Visual acuity test abnormality
HP:0030534	Abnormal best corrected visual acuity test
HP:0030551	Visual acuity light perception with projection
HP:0030553	Visual acuity no light perception
HP:0030584	Color vision test abnormality
HP:0030588	Abnormal visual field test
HP:0030591	Abnormal kinetic perimetry test
HP:0030609	Photoreceptor layer loss on macular OCT
HP:0030613	Abnormal foveal morphology on macular OCT
HP:0030615	Foveal photoreceptor outer segment loss on macular OCT
HP:0030625	Hyporeflective spaces on macular OCT
HP:0030629	Perifoveal ring of hyperautofluorescence
HP:0030631	Hyperautofluorescent macular lesion
HP:0030637	Congenital stationary cone dysfunction
HP:0030642	Fundus albipunctatus
HP:0030657	Umbilical cord hematoma
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:0030682	Left ventricular noncompaction
HP:0030683	Vaginitis
HP:0030685	Decreased adiponectin level
HP:0030688	Increased glucagon level
HP:0030690	Gingival cleft
HP:0030692	Brain neoplasm
HP:0030707	Unilateral lung agenesis
HP:0030713	Vein of Galen aneurysmal malformation
HP:0030718	Right atrial enlargement
HP:0030720	Subchorionic septal cyst
HP:0030721	Tetraphocomelia
HP:0030731	Carcinoma
HP:0030732	Dysplastic tricuspid valve
HP:0030736	Sacrococcygeal teratoma
HP:0030746	Intraventricular hemorrhage
HP:0030752	Dacryocystocele
HP:0030757	Tooth abscess
HP:0030758	Periapical tooth abscess
HP:0030760	Renal fibrosis
HP:0030766	Ear pain
HP:0030774	Mitochondrial swelling
HP:0030775	Modic type vertebral endplate changes
HP:0030781	Increased circulating free fatty acid level
HP:0030782	Abnormal serum interleukin level
HP:0030784	Anomia
HP:0030786	Photopsia
HP:0030794	Abnormal C-peptide level
HP:0030796	Increased C-peptide level
HP:0030799	Scaphocephaly
HP:0030800	Abnormal visual accommodation
HP:0030802	Lower eyelid retraction
HP:0030804	Trachyonychia
HP:0030812	Enlarged tonsils
HP:0030813	Absent tonsils
HP:0030814	Orange discoloured tonsils
HP:0030816	Gingival recession
HP:0030820	Hooded eyelid
HP:0030823	Scleral thickening
HP:0030824	Mizuo phenomenon
HP:0030825	Absent foveal reflex
HP:0030828	Wheezing
HP:0030830	Crackles
HP:0030833	Neck pain
HP:0030834	Shoulder pain
HP:0030838	Hip pain
HP:0030839	Knee pain
HP:0030842	Choking episodes
HP:0030848	Elevated jugular venous pressure
HP:0030853	Heterotaxy
HP:0030856	Posterior staphyloma
HP:0030865	Large elbow
HP:0030866	Large knee
HP:0030868	Monorchism
HP:0030872	Abnormal cardiac ventricular function
HP:0030877	Reduced FEV1/FVC ratio
HP:0030878	Abnormality on pulmonary function testing
HP:0030880	Raynaud phenomenon
HP:0030882	Coronary artery aneurysm
HP:0030884	Gastrojejunal tube feeding in infancy
HP:0030889	Congenital shortened small intestine
HP:0030890	Hyperintensity of cerebral white matter on MRI
HP:0030891	Periventricular white matter hyperdensities
HP:0030892	Deep cerebral white matter hyperdensities
HP:0030897	Decreased intestinal transit time
HP:0030903	Grasp reflex
HP:0030904	Glabellar reflex
HP:0030906	Suck reflex
HP:0030909	Anti-liver cytosolic antigen type 1 antibody positivity
HP:0030914	Abnormal peristalsis
HP:0030915	Cerebellar edema
HP:0030917	Low APGAR score
HP:0030939	Palpebral thickening
HP:0030951	Skeletal muscle fibrosis
HP:0030953	Conjunctival hyperemia
HP:0030955	Alcoholism
HP:0030961	Microspherophakia
HP:0030974	Cryptozoospermia
HP:0030978	Decreased CSF/serum albumin ratio
HP:0030980	Reduced brain glutamine level by MRS
HP:0030983	Ovarian thecoma
HP:0030991	Sclerosing cholangitis
HP:0030996	Megaduodenum
HP:0030997	Atretic vas deferens
HP:0031005	Hyperalgesia
HP:0031008	Lingual dystonia
HP:0031013	Ankylosis
HP:0031014	Arteria lusoria
HP:0031020	Bone marrow hypercellularity
HP:0031026	Snail-like ilia
HP:0031028	Lactescent serum
HP:0031029	Elevated carcinoembryonic antigen level
HP:0031030	Elevated carcinoma antigen 125 level
HP:0031035	Chronic infection
HP:0031041	Obstruction of the superior vena cava
HP:0031045	Acral blistering
HP:0031047	Paraproteinemia
HP:0031057	Skin fissure
HP:0031058	Impairment of activities of daily living
HP:0031064	Impaired continence
HP:0031074	Abnormal response to ACTH stimulation test
HP:0031076	Impaired cortisol response to insulin stimulation test
HP:0031085	Decreased prealbumin level
HP:0031087	Absent pubertal growth spurt
HP:0031088	Vaginal dryness
HP:0031104	Insulin receptor antibody positivity
HP:0031107	Decreased fibular diameter
HP:0031108	Triceps weakness
HP:0031109	Agalactia
HP:0031123	Recurrent gastroenteritis
HP:0031126	Impaired clot retraction
HP:0031139	Frog-leg posture
HP:0031146	Impaired oral bolus formation
HP:0031152	Full-thickness macular hole
HP:0031153	Membranous vitreous appearance
HP:0031156	Decreased platelet glycoprotein Ib
HP:0031157	Carotid cavernous fistula
HP:0031159	Thinning of Descemet membrane
HP:0031160	Myelokathexis
HP:0031162	Impaired oropharyngeal swallow response
HP:0031165	Multifocal seizures
HP:0031166	Eyelid myokymia
HP:0031174	Double-layered patella
HP:0031177	Finger flexor weakness
HP:0031188	Genital edema
HP:0031189	Wrist drop
HP:0031193	Abnormal morphology of right ventricular trabeculae
HP:0031206	Striatal T2 hyperintensity
HP:0031214	Decreased circulating dehydroepiandrosterone level
HP:0031218	Inappropriate antidiuretic hormone secretion
HP:0031228	Abnormal incisura morphology
HP:0031233	Horizontal inferior border of scapula
HP:0031237	Internally nucleated skeletal muscle fibers
HP:0031245	Productive cough
HP:0031258	Delirium
HP:0031261	Bladder polyp
HP:0031266	Podocyte foot process effacement
HP:0031273	Shock
HP:0031282	Malalignment of the great toenail
HP:0031284	Flushing
HP:0031285	Abnormal perifollicular morphology
HP:0031287	Seborrheic keratosis
HP:0031290	Tuberous xanthoma
HP:0031292	Cutaneous abscess
HP:0031295	Left atrial enlargement
HP:0031298	Coronary sinus enlargement
HP:0031318	Myofiber disarray
HP:0031319	Cardiomyocyte hypertrophy
HP:0031320	Cardiomyocyte mitochondrial proliferation
HP:0031323	Myocardial eosinophilic infiltration
HP:0031358	Vegetative state
HP:0031364	Ecchymosis
HP:0031367	Metaphyseal striations
HP:0031368	Intestinal perforation
HP:0031369	Colon perforation
HP:0031372	Cold paresis
HP:0031374	Ankle weakness
HP:0031381	Decreased lymphocyte proliferation in response to mitogen
HP:0031385	Megakaryocyte nucleus hypolobulation
HP:0031390	Reduced MHC II surface expression
HP:0031392	Abnormal proportion of CD4 T cells
HP:0031393	Abnormal proportion of CD8 T cells
HP:0031394	Abnormal CD4:CD8 ratio
HP:0031397	Reduced proportion of naive T cells
HP:0031401	Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
HP:0031404	Impaired antigen-specific response
HP:0031405	Poroma
HP:0031409	Abnormal lymphocyte physiology
HP:0031417	Rhinorrhea
HP:0031418	Increased body mass index
HP:0031422	Abnormal morphology of the cerebellar cortex
HP:0031423	Small cerebellar cortex
HP:0031428	Increased circulating osteocalcin level
HP:0031434	Abnormal speech prosody
HP:0031435	Monotonic speech
HP:0031437	Pregnancy exposure
HP:0031454	Apocrine hidrocystoma
HP:0031459	Soft tissue neoplasm
HP:0031469	Low self esteem
HP:0031473	Hostility
HP:0031485	Subperiosteal bone formation
HP:0031487	Capillary malformation of the lip
HP:0031490	Hemangioma of the lip
HP:0031494	Ovarian mucinous tumor
HP:0031500	Abdominal mass
HP:0031516	Oocyte arrest at metaphase I
HP:0031520	Groin pain
HP:0031524	Ampulla of Vater carcinoma
HP:0031526	Subretinal fluid
HP:0031528	Subretinal deposits
HP:0031531	Sub-RPE deposits
HP:0031545	Abnormally low T cell receptor excision circle level
HP:0031546	Cardiac conduction abnormality
HP:0031555	Reduced granulocyte CD59 level
HP:0031565	Abdominal situs ambiguus
HP:0031605	Abnormality of fundus pigmentation
HP:0031609	Geographic atrophy
HP:0031629	Impaired tandem gait
HP:0031649	Aortic rupture
HP:0031655	Quadricuspid aortic valve
HP:0031665	Midsystolic murmur
HP:0031677	Polymorphic ventricular tachycardia
HP:0031688	Erythroid dysplasia
HP:0031689	Megakaryocyte dysplasia
HP:0031691	Severe viral infection
HP:0031699	Disseminated cryptosporidium infection
HP:0031703	Abnormal ear morphology
HP:0031721	Sensory exotropia
HP:0031723	Secondary esotropia
HP:0031790	Mixed astigmatism
HP:0031798	Elevated apolipoprotein B level
HP:0031800	Elevated apolipoprotein A-II level
HP:0031814	Palilalia
HP:0031817	Decreased circulating parathyroid hormone level
HP:0031819	Increased waist to hip ratio
HP:0031820	Decreased waist to hip ratio
HP:0031834	Aortopulmonary collateral arteries
HP:0031842	Lymphangiectasis
HP:0031844	Euphoria
HP:0031846	Femur fracture
HP:0031849	Sleep-wake inversion
HP:0031853	Isomerism
HP:0031868	Optic ataxia
HP:0031873	Early chronotype
HP:0031877	Elevated hepcidin level
HP:0031878	Acromicria
HP:0031882	Agyria
HP:0031883	Increased proinsulin:insulin ratio
HP:0031908	Micrographia
HP:0031931	Ocular flutter
HP:0031936	Delayed ability to walk
HP:0031945	Elevated N,N-dimethylglycine level
HP:0031946	Elevated urinary N,N-dimethylglycine level
HP:0031947	Tongue tremor
HP:0031951	Nocturnal seizures
HP:0031956	Elevated serum aspartate aminotransferase
HP:0031958	Spastic paraparetic gait
HP:0031959	Leg dystonia
HP:0031964	Elevated serum alanine aminotransferase
HP:0031972	Presyncope
HP:0031981	Elevated urine glycolate
HP:0031982	Abnormal putamen morphology
HP:0031987	Diminished ability to concentrate
HP:0032001	Pink urine
HP:0032003	Green urine
HP:0032007	Maceration
HP:0032037	Mildly reduced visual acuity
HP:0032046	Focal cortical dysplasia
HP:0032047	Focal cortical dysplasia type I
HP:0032051	Focal cortical dysplasia type II
HP:0032052	Focal cortical dysplasia type IIa
HP:0032061	Hypereosinophilia
HP:0032075	Splenopancreatic fusion
HP:0032092	Left ventricular outflow tract obstruction
HP:0032097	Hypermanganesemia
HP:0032105	Macrosaccadic oscillations
HP:0032106	Conjunctival icterus
HP:0032107	Limbal stem cell deficiency
HP:0032118	Retinitis
HP:0032147	Erythromelalgia
HP:0032152	Keratosis pilaris
HP:0032153	Joint subluxation
HP:0032163	Molluscum contagiosum
HP:0032192	Hydatidiform mole
HP:0032198	Decreased prothrombin time
HP:0032220	Interface hepatitis
HP:0032222	Serrated intestinal polyps
HP:0032227	Sebaceous hyperplasia
HP:0032228	Trichodiscoma
HP:0032231	Hypochromia
HP:0032259	Chronic tinea infection
HP:0032272	Elevated urinary N-acetylaspartic acid level
HP:0032273	Increased circulating N-Acetylaspartic acid concentration
HP:0032274	Increased CSF N-Acetylaspartic acid concentration
HP:0032275	Recurrent shingles
HP:0032276	Prominent subcalcaneal fat pad
HP:0032277	Lozenge-shaped umbilicus
HP:0032284	Ultra-low vision with retained motion projection
HP:0032313	Frontotemporal hypertrichosis
HP:0032315	Areolar fullness
HP:0032323	Periodic fever
HP:0032325	Lacunar stroke
HP:0032327	Interhemispheric cyst
HP:0032341	Reduced forced vital capacity
HP:0032344	Upslanting toenail
HP:0032346	Cutaneous lichen amyloidosis
HP:0032347	Cutaneous macular amyloidosis
HP:0032352	Methioninuria
HP:0032388	Periventricular nodular heterotopia
HP:0032391	Subcortical heterotopia
HP:0032401	Aspartic aciduria
HP:0032409	Subcortical band heterotopia
HP:0032434	Delayed umbilical cord separation
HP:0032435	Neonatal omphalitis
HP:0032438	Platelet anisocytosis
HP:0032448	Achlorhydria
HP:0032451	Oral melanotic macule
HP:0032454	Labial melanotic macule
HP:0032458	Narrowing of medullary canal
HP:0032460	Decreased phosphoribosylpyrophosphate synthetase activity
HP:0032464	Ureteral hypoplasia
HP:0032479	Preimplantation lethality
HP:0032497	Reduced terminal:vellus ratio
HP:0032515	Deep dermatophytosis
HP:0032521	Self hugging
HP:0032528	Elevated urinary 4-hydroxybutyric acid
HP:0032529	Elevated circulating gamma-aminobutyric acid concentration
HP:0032530	Decreased succinic semialdehyde dehydrogenase activity
HP:0032531	Elevated CSF gamma-aminobutyric acid concentration
HP:0032532	Elevated CSF 4-hydroxybutyric acid concentration
HP:0040009	Hyperparakeratosis
HP:0040010	Small posterior fossa
HP:0040012	Chromosome breakage
HP:0040013	Decreased mitochondrial number
HP:0040014	Increased mitochondrial number
HP:0040016	Prominent coccyx
HP:0040019	Finger clinodactyly
HP:0040022	Clinodactyly of the 2nd finger
HP:0040025	Clinodactyly of the 4th finger
HP:0040030	Chorioretinal hypopigmentation
HP:0040036	Onychogryposis of fingernail
HP:0040047	Abnormality of the right hemidiaphragm
HP:0040049	Macular edema
HP:0040066	Abnormal morphology of bones of the lower limbs
HP:0040075	Hypopituitarism
HP:0040079	Irregular dentition
HP:0040080	Anteverted ears
HP:0040081	Abnormal circulating creatine kinase concentration
HP:0040082	Happy demeanor
HP:0040083	Toe walking
HP:0040084	Abnormal circulating renin
HP:0040085	Abnormal circulating aldosterone
HP:0040086	Abnormal prolactin level
HP:0040088	Abnormal lymphocyte count
HP:0040089	Abnormal natural killer cell count
HP:0040111	Bilateral external ear deformity
HP:0040126	Abnormal vitamin B12 level
HP:0040131	Abnormal motor nerve conduction velocity
HP:0040132	Abnormal sensory nerve conduction velocity
HP:0040135	Abnormal transferrin saturation
HP:0040137	Comedonal acne
HP:0040139	Lipogranulomatosis
HP:0040140	Degeneration of the striatum
HP:0040142	Reduced 5-oxoprolinase activity
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:0040165	Periostitis
HP:0040166	Abnormality of the periosteum
HP:0040168	Focal seizures, afebril
HP:0040169	Loose anagen hair
HP:0040171	Decreased serum testosterone level
HP:0040173	Abnormality of the tongue muscle
HP:0040175	Platelet-activating factor acetylhydrolase deficiency
HP:0040178	Increased level of platelet-activating factor
HP:0040180	Hyperkeratosis pilaris
HP:0040181	Chapped lip
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:0040191	Rectus femoris muscle atrophy
HP:0040194	Increased head circumference
HP:0040196	Mild microcephaly
HP:0040197	Encephalomalacia
HP:0040198	Non-medullary thyroid carcinoma
HP:0040201	Simultanapraxia
HP:0040214	Abnormal insulin level
HP:0040215	Abnormal circulating insulin level
HP:0040216	Hypoinsulinemia
HP:0040217	Elevated hemoglobin A1c
HP:0040218	Reduced natural killer cell count
HP:0040219	Absent natural killer cells
HP:0040223	Pulmonary hemorrhage
HP:0040228	Decreased level of plasminogen
HP:0040232	Delayed onset bleeding
HP:0040235	Leukocyte inclusion bodies
HP:0040238	Impaired neutrophil chemotaxis
HP:0040246	Reduced antithrombin antigen
HP:0040247	Reduced euglobulin clot lysis time
HP:0040250	Reduced prothrombin antigen
HP:0040264	Jaw pain
HP:0040266	Proximal upper limb muscle hypertrophy
HP:0040268	Recurrent infections of the middle ear
HP:0040270	Impaired glucose tolerance
HP:0040276	Adenocarcinoma of the colon
HP:0040278	Prolactinoma
HP:0040287	Axial muscle atrophy
HP:0040288	Nasogastric tube feeding
HP:0040290	Abnormality of skeletal muscles
HP:0040291	Skeletal muscle steatosis
HP:0040301	Increased urinary glycerol
HP:0040303	Decreased serum iron
HP:0040307	Male sexual dysfunction
HP:0040309	Increased size of the mandible
HP:0040313	Oligoarthritis
HP:0040314	Blind vagina
HP:0040315	Tongue edema
HP:0040319	Dark urine
HP:0040326	Hypoplasia of the olfactory bulb
HP:0040334	Purulent rhinitis
HP:0045005	Neural tube defect
HP:0045007	Abnormality of the substantia nigra
HP:0045010	Abnormality of peripheral nerves
HP:0045014	Hypolipidemia
HP:0045017	Congenital malformation of the left heart
HP:0045025	Narrow palpebral fissure
HP:0045026	Abnormality of the mediastinum
HP:0045028	Microlissencephaly
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:0045042	Decreased serum complement C4
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:0045074	Thin eyebrow
HP:0045075	Sparse eyebrow
HP:0045080	Decreased proportion of CD3-positive T cells
HP:0045082	Decreased body mass index
HP:0045084	Limb myoclonus
HP:0100000	Early onset of sexual maturation
HP:0100001	Malignant mesothelioma
HP:0100006	Neoplasm of the central nervous system
HP:0100008	Schwannoma
HP:0100009	Intracranial meningioma
HP:0100010	Spinal meningioma
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:0100018	Nuclear cataract
HP:0100019	Cortical cataract
HP:0100020	Posterior capsular 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:0100031	Neoplasm of the thyroid gland
HP:0100033	Tics
HP:0100034	Motor tics
HP:0100035	Phonic tics
HP:0100036	Pseudo-fractures
HP:0100040	Broad 2nd toe
HP:0100168	Fragmented epiphyses
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:0100250	Meningeal calcification
HP:0100251	Multiple central nervous system lipomas
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:0100271	Hyponasal speech
HP:0100273	Neoplasm of the colon
HP:0100274	Gustatory lacrimation
HP:0100275	Diffuse cerebellar atrophy
HP:0100277	Periauricular skin pits
HP:0100279	Ulcerative colitis
HP:0100280	Crohn's disease
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:0100297	Increased endomysial connective tissue
HP:0100299	Muscle fiber inclusion bodies
HP:0100301	Muscle fiber tubular inclusions
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies
HP:0100307	Cerebellar hemisphere hypoplasia
HP:0100308	Cerebral cortical hemiatrophy
HP:0100309	Subdural hemorrhage
HP:0100315	Lewy bodies
HP:0100318	Lafora bodies
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:0100387	Aplasia of the middle phalanges of the toes
HP:0100391	Short distal phalanx of the 5th toe
HP:0100453	Osteolytic defects of the middle phalanx of the 4th toe
HP:0100490	Camptodactyly of finger
HP:0100491	Abnormality of lower limb joint
HP:0100493	Hypoammonemia
HP:0100494	Abnormal mast cell morphology
HP:0100495	Mastocytosis
HP:0100499	Tibial deviation of toes
HP:0100501	Recurrent bronchiolitis
HP:0100502	Vitamin B12 deficiency
HP:0100503	Low levels of vitamin B1
HP:0100504	Low levels of vitamin B2
HP:0100508	Abnormality of vitamin metabolism
HP:0100511	Abnormality of vitamin D metabolism
HP:0100512	Vitamin D deficiency
HP:0100513	Low levels of vitamin E
HP:0100514	Abnormality of vitamin E metabolism
HP:0100515	Pollakisuria
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:0100528	Pleuropulmonary blastoma
HP:0100530	Abnormal calcium-phosphate regulating hormone level
HP:0100532	Scleritis
HP:0100533	Inflammatory abnormality of the eye
HP:0100534	Episcleritis
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:0100550	Tendon rupture
HP:0100553	Hemihypertrophy of lower limb
HP:0100554	Hemihypertrophy of upper limb
HP:0100555	Asymmetric growth
HP:0100556	Hemiatrophy
HP:0100559	Lower limb asymmetry
HP:0100560	Upper limb asymmetry
HP:0100561	Spinal cord lesion
HP:0100569	Abnormally ossified vertebrae
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:0100585	Telangiectasia of the skin
HP:0100587	Abnormality of the preputium
HP:0100589	Urogenital fistula
HP:0100592	Peritoneal abscess
HP:0100593	Calcification of cartilage
HP:0100596	Absent nares
HP:0100598	Pulmonary edema
HP:0100601	Eclampsia
HP:0100602	Preeclampsia
HP:0100607	Dysmenorrhea
HP:0100608	Metrorrhagia
HP:0100610	Maternal hyperphenylalaninemia
HP:0100611	Multiple glomerular cysts
HP:0100612	Odontogenic neoplasm
HP:0100614	Myositis
HP:0100615	Ovarian neoplasm
HP:0100617	Testicular seminoma
HP:0100618	Leydig cell neoplasia
HP:0100619	Sertoli cell neoplasm
HP:0100621	Dysgerminoma
HP:0100625	Enlarged thorax
HP:0100626	Chronic hepatic failure
HP:0100627	Displacement of the urethral meatus
HP:0100628	Esophageal diverticulum
HP:0100630	Neoplasia of the nasopharynx
HP:0100632	Pulmonary sequestration
HP:0100634	Neuroendocrine neoplasm
HP:0100639	Erectile abnormalities
HP:0100641	Neoplasm of the adrenal cortex
HP:0100643	Abnormality of nail color
HP:0100644	Melanonychia
HP:0100645	Cystocele
HP:0100646	Thyroiditis
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:0100658	Cellulitis
HP:0100659	Abnormality of the cerebral vasculature
HP:0100660	Dyskinesia
HP:0100661	Trigeminal neuralgia
HP:0100663	Synotia
HP:0100665	Angioedema
HP:0100669	Abnormal pigmentation of the oral mucosa
HP:0100670	Rough bone trabeculation
HP:0100671	Abnormal trabecular bone morphology
HP:0100678	Premature skin wrinkling
HP:0100679	Lack of skin elasticity
HP:0100682	Tracheal atresia
HP:0100684	Salivary gland neoplasm
HP:0100686	Enthesitis
HP:0100689	Decreased corneal thickness
HP:0100693	Iridodonesis
HP:0100694	Tibial torsion
HP:0100697	Neurofibrosarcoma
HP:0100699	Scarring
HP:0100702	Arachnoid cyst
HP:0100703	Tongue thrusting
HP:0100704	Cerebral visual impairment
HP:0100707	Abnormality of the astrocytes
HP:0100709	Reduction of oligodendroglia
HP:0100710	Impulsivity
HP:0100711	Abnormality of the thoracic spine
HP:0100716	Self-injurious behavior
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:0100732	Pancreatic fibrosis
HP:0100733	Neoplasm of the parathyroid gland
HP:0100734	Abnormality of vertebral epiphysis morphology
HP:0100735	Hypertensive crisis
HP:0100736	Abnormal soft palate morphology
HP:0100738	Abnormal eating behavior
HP:0100742	Vascular neoplasm
HP:0100743	Neoplasm of the rectum
HP:0100748	Muscular edema
HP:0100749	Chest pain
HP:0100750	Atelectasis
HP:0100751	Esophageal neoplasm
HP:0100752	Abnormal liver lobulation
HP:0100753	Schizophrenia
HP:0100755	Abnormality of salivation
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: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: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:0100803	Abnormality of the periungual region
HP:0100804	Ungual fibroma
HP:0100806	Sepsis
HP:0100808	Gastric diverticulum
HP:0100812	Halitosis
HP:0100813	Testicular torsion
HP:0100814	Blue nevus
HP:0100817	Renovascular hypertension
HP:0100818	Long thorax
HP:0100819	Intestinal fistula
HP:0100820	Glomerulopathy
HP:0100823	Genital hernia
HP:0100825	Cheilitis
HP:0100827	Lymphocytosis
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:0100840	Aplasia/Hypoplasia of the eyebrow
HP:0100842	Septo-optic dysplasia
HP:0100852	Abnormal fear/anxiety-related behavior
HP:0100853	Hypoplastic areola
HP:0100856	Poorly ossified vertebrae
HP:0100858	Dilatation of celiac artery
HP:0100861	Sclerotic vertebral body
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:0100874	Thick hair
HP:0100876	Infra-orbital crease
HP:0100877	Renal diverticulum
HP:0100879	Enlarged ovaries
HP:0100880	Nephrogenic rest
HP:0100886	Abnormality of globe location
HP:0100887	Abnormality of globe size
HP:0100889	Abnormality 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:0100953	Enlarged interhemispheric fissure
HP:0100954	Open operculum
HP:0100957	Abnormal renal medulla morphology
HP:0100959	Dense metaphyseal bands
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:0200016	Acrokeratosis
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: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	Epidermoid cyst
HP:0200041	Skin erosion
HP:0200042	Skin ulcer
HP:0200043	Verrucae
HP:0200044	Porokeratosis
HP:0200046	Cat cry
HP:0200049	Upper limb hypertonia
HP:0200053	Hemihypotrophy of lower limb
HP:0200055	Small hand
HP:0200056	Macular scar
HP:0200057	Marcus Gunn pupil
HP:0200058	Angiosarcoma
HP:0200063	Colorectal polyposis
HP:0200065	Chorioretinal 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: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 cryptosporidium infection
HP:0200125	Mitochondrial respiratory chain defects
HP:0200127	Atrial cardiomyopathy
HP:0200128	Biventricular hypertrophy
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	Mucoid extracellular matrix accumulation
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:0200160	Agenesis of maxillary incisor
HP:0400000	Tall chin
HP:0400004	Long ear
HP:0400005	Short ear
HP:0400008	Menometrorrhagia
HP:0410003	Cleft maxillary alveolus
HP:0410005	Cleft hard palate
HP:0410011	Abnormality of masticatory muscle
HP:0410018	Recurrent ear infections
HP:0410019	Epigastric pain
HP:0410020	Fish odor
HP:0410027	Alveolar bone loss around teeth
HP:0410030	Cleft lip
HP:0410033	Unilateral alveolar cleft of maxilla
HP:0410049	Abnormality of radial ray
HP:0410050	Decreased level of 1,5 anhydroglucitol in serum
HP:0410051	Increased level of 3-hydroxy-3-methylglutaric acid in urine
HP:0410054	Decreased level of GABA in serum
HP:0410055	Decreased level of erythritol in urine
HP:0410056	Decreased level of erythritol in CSF
HP:0410057	Increased level of D-threitol in plasma
HP:0410058	Increased level of D-threitol in CSF
HP:0410059	Increased level of D-threitol in urine
HP:0410061	Increased level of galactitol in plasma
HP:0410062	Increased level of galactitol in urine
HP:0410063	Increased level of galactonate in red blood cells
HP:0410064	Increased level of galactitol in red blood cells
HP:0410066	Increased level of hippuric acid in urine
HP:0410067	Increased level of L-fucose in urine
HP:0410068	Increased level of L-glutamic acid in blood
HP:0410069	Increased level of propylene glycol in blood
HP:0410070	Increased level of ribitol in urine
HP:0410071	Increased level of ribitol in CSF
HP:0410072	Increased level of ribose in urine
HP:0410073	Increased level of ribose in CSF
HP:0410074	Increased level of xylitol in urine
HP:0410075	Increased level of xylitol in CSF
HP:0410132	Increased level of L-pyroglutamic acid in urine
HP:0410145	Decreased biotinidase activity
HP:0410151	Eosinophilic infiltration of the esophagus
HP:0410170	Hippocampal atrophy
HP:0410175	Hyperketonemia
HP:0410219	Hypoplasia of mandible relative to maxilla
HP:0410246	Increased circulating IgD level
HP:0410256	Infection associated neutropenia
HP:0410259	Hepatopulmonary fusion
HP:0410263	Brain imaging abnormality
HP:0410264	Subglottic hemangioma
HP:0410276	Supraumbilical raphe
HP:0410279	Atrophic pituitary gland
HP:0410291	Negativism
HP:0410309	Alpha-aminoadipic aciduria
HP:0430000	Abnormality of the frontal bone
HP:0430007	Symblepharon
HP:0430015	Abnormality of musculature of pharynx
HP:0430021	Abnormal common carotid artery morphology
HP:0430025	Bilateral facial palsy
HP:0430026	Abnormality of the shape of the midface
HP:0430028	Hyperplasia of the maxilla
HP:0500001	Body odor
HP:0500005	Anal pain
HP:0500009	Dysplastic gangliocytoma of the cerebellum
HP:0500011	Moon facies
HP:0500041	Myopic astigmatism
HP:0500070	Conjunctival dermolipoma
HP:0500087	Peripapillary atrophy
HP:0500093	Food allergy
HP:0500134	Hypertryptophanemia
HP:0500167	Hypergastrinemia
HP:0500253	Increased level of gamma-aminobutyric acid in urine
HP:3000005	Abnormality of masseter muscle
HP:3000019	Abnormality of buccal mucosa
HP:3000037	Abnormality of neck blood vessel
HP:3000038	Abnormal cricoid cartilage morphology
HP:3000062	Abnormal internal carotid artery morphology
MONDO:0000129	glutaric aciduria (disease)
MONDO:0000746	inguinal hernia
MONDO:0001409	esophagitis (disease)
MONDO:0005361	eosinophilic esophagitis
MONDO:0009281	glutaryl-CoA dehydrogenase deficiency
MONDO:0009282	multiple acyl-CoA dehydrogenase deficiency
MONDO:0009283	glutaric acidemia type 3