Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Storage in hepatocytes (HP:0031137)

Parent Node:
Lipid accumulation in hepatocytes (HP:0006561)

..Starting node
..Hepatic steatosis (HP:0001397)

Term ID:

1397

Name:

Hepatic steatosis

Synonym:

Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis

Definition:

Steatosis is a term used to denote lipid accumulation within hepatocytes.

Comments:

Reference:

HP:0001397

Genes and Diseases:

Child Nodes:

........

Macrovesicular hepatic steatosis (HP:0001403)

........

Microvesicular hepatic steatosis (HP:0001414)

........

Diffuse hepatic steatosis (HP:0006555)

........

Acute hepatic steatosis (HP:0006573)

Sister Nodes:

Increased hepatocellular lipid droplets (HP:0006565)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001397	HP:0001397	Hepatic steatosis	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0001397	HP:0001397	Hepatic steatosis	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0001397	HP:0001397	Hepatic steatosis	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.	90
HP:0001397	HP:0001397	Hepatic steatosis	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0001397	HP:0001397	Hepatic steatosis	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0001397	HP:0001397	Hepatic steatosis	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0001397	HP:0001397	Hepatic steatosis	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.	197
HP:0001397	HP:0001397	Hepatic steatosis	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0001397	HP:0001397	Hepatic steatosis	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	90
HP:0001397	HP:0001397	Hepatic steatosis	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0001397	HP:0001397	Hepatic steatosis	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency		120
HP:0001397	HP:0001397	Hepatic steatosis	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0001397	HP:0001397	Hepatic steatosis	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0001397	HP:0001397	Hepatic steatosis	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0001397	HP:0001397	Hepatic steatosis	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0001397	HP:0001397	Hepatic steatosis	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent	12
HP:0001397	HP:0001397	Hepatic steatosis	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0001397	HP:0001397	Hepatic steatosis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0001397	HP:0001397	Hepatic steatosis	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0001397	HP:0001397	Hepatic steatosis	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0001397	HP:0001397	Hepatic steatosis	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent	39
HP:0001397	HP:0001397	Hepatic steatosis	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0001397	HP:0001397	Hepatic steatosis	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0001397	HP:0001397	Hepatic steatosis	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0001397	HP:0001397	Hepatic steatosis	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0001397	HP:0001397	Hepatic steatosis	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0001397	HP:0001397	Hepatic steatosis	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent	72
HP:0001397	HP:0001397	Hepatic steatosis	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0001397	HP:0001397	Hepatic steatosis	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0001397	HP:0001397	Hepatic steatosis	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0001397	HP:0001397	Hepatic steatosis	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0001397	HP:0001397	Hepatic steatosis	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040282 - Frequent	105
HP:0001397	HP:0001397	Hepatic steatosis	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0001397	HP:0001397	Hepatic steatosis	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0001397	HP:0001397	Hepatic steatosis	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0001397	HP:0001397	Hepatic steatosis	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0001397	HP:0001397	Hepatic steatosis	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0001397	HP:0001397	Hepatic steatosis	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0001397	HP:0001397	Hepatic steatosis	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.	242
HP:0001397	HP:0001397	Hepatic steatosis	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0001397	HP:0001397	Hepatic steatosis	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0001397	HP:0001397	Hepatic steatosis	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5	.	8
HP:0001397	HP:0001397	Hepatic steatosis	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040283 - Occasional	38
HP:0001397	HP:0001397	Hepatic steatosis	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001397	HP:0001397	Hepatic steatosis	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001397	HP:0001397	Hepatic steatosis	0	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6	.	104
HP:0001397	HP:0001397	Hepatic steatosis	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.	99
HP:0001397	HP:0001397	Hepatic steatosis	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional	101
HP:0001397	HP:0001397	Hepatic steatosis	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional	101
HP:0001397	HP:0001397	Hepatic steatosis	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile		101
HP:0001397	HP:0001397	Hepatic steatosis	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0001397	HP:0001397	Hepatic steatosis	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040282 - Frequent	60
HP:0001397	HP:0001397	Hepatic steatosis	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent	11
HP:0001397	HP:0001397	Hepatic steatosis	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent	62
HP:0001397	HP:0001397	Hepatic steatosis	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001397	HP:0001397	Hepatic steatosis	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0001397	HP:0001397	Hepatic steatosis	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001397	HP:0001397	Hepatic steatosis	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0001397	HP:0001397	Hepatic steatosis	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0001397	HP:0001397	Hepatic steatosis	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0001397	HP:0001397	Hepatic steatosis	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0001397	HP:0001397	Hepatic steatosis	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0001397	HP:0001397	Hepatic steatosis	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0001397	HP:0001397	Hepatic steatosis	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0001397	HP:0001397	Hepatic steatosis	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0001397	HP:0001397	Hepatic steatosis	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001397	HP:0001397	Hepatic steatosis	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001397	HP:0001397	Hepatic steatosis	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0001397	HP:0001397	Hepatic steatosis	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001397	HP:0001397	Hepatic steatosis	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0001397	HP:0001397	Hepatic steatosis	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0001397	HP:0001397	Hepatic steatosis	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0001397	HP:0001397	Hepatic steatosis	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001397	HP:0001397	Hepatic steatosis	0	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	.	3
HP:0001397	HP:0001397	Hepatic steatosis	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.	41
HP:0001397	HP:0001397	Hepatic steatosis	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0001397	HP:0001397	Hepatic steatosis	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency		99
HP:0001397	HP:0001397	Hepatic steatosis	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency		60
HP:0001397	HP:0001397	Hepatic steatosis	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0001397	HP:0001397	Hepatic steatosis	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0001397	HP:0001397	Hepatic steatosis	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0001397	HP:0001397	Hepatic steatosis	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0001397	HP:0001397	Hepatic steatosis	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0001397	HP:0001397	Hepatic steatosis	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040282 - Frequent
HP:0001397	HP:0001397	Hepatic steatosis	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	HP:0040283 - Occasional
HP:0001397	HP:0001397	Hepatic steatosis	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0001397	HP:0001397	Hepatic steatosis	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0001397	HP:0001397	Hepatic steatosis	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0001397	HP:0001397	Hepatic steatosis	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	.
HP:0001397	HP:0001397	Hepatic steatosis	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0001397	HP:0001397	Hepatic steatosis	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0001397	HP:0001397	Hepatic steatosis	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		1
HP:0001397	HP:0001397	Hepatic steatosis	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0001397	HP:0001397	Hepatic steatosis	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0001397	HP:0001397	Hepatic steatosis	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	.	7
HP:0001397	HP:0001397	Hepatic steatosis	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0001397	HP:0001397	Hepatic steatosis	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0001397	HP:0001397	Hepatic steatosis	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0001397	HP:0001397	Hepatic steatosis	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040282 - Frequent	645
HP:0001397	HP:0001397	Hepatic steatosis	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0001397	HP:0001397	Hepatic steatosis	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040283 - Occasional	11
HP:0001397	HP:0001397	Hepatic steatosis	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent	191
HP:0001397	HP:0001397	Hepatic steatosis	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type		191
HP:0001397	HP:0001397	Hepatic steatosis	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001397	HP:0001397	Hepatic steatosis	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19	.	4
HP:0001397	HP:0001397	Hepatic steatosis	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0001397	HP:0001397	Hepatic steatosis	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0001397	HP:0001397	Hepatic steatosis	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001397	HP:0001397	Hepatic steatosis	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001397	HP:0001397	Hepatic steatosis	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0001397	HP:0001397	Hepatic steatosis	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0001397	HP:0001397	Hepatic steatosis	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0001397	HP:0001397	Hepatic steatosis	0	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16		13
HP:0001397	HP:0001397	Hepatic steatosis	0	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.	12
HP:0001397	HP:0001397	Hepatic steatosis	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0001397	HP:0001397	Hepatic steatosis	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001397	HP:0001397	Hepatic steatosis	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001397	HP:0001397	Hepatic steatosis	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11		40
HP:0001397	HP:0001397	Hepatic steatosis	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0001397	HP:0001397	Hepatic steatosis	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0001397	HP:0001397	Hepatic steatosis	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001397	HP:0001397	Hepatic steatosis	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	2
HP:0001397	HP:0001397	Hepatic steatosis	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10		2
HP:0001397	HP:0001397	Hepatic steatosis	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.	53
HP:0001397	HP:0001397	Hepatic steatosis	0	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial	.	6
HP:0001397	HP:0001397	Hepatic steatosis	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0001397	HP:0001397	Hepatic steatosis	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0001397	HP:0001397	Hepatic steatosis	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0001397	HP:0001397	Hepatic steatosis	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001397	HP:0001397	Hepatic steatosis	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001397	HP:0001397	Hepatic steatosis	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0001397	HP:0001397	Hepatic steatosis	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48
HP:0001397	HP:0001397	Hepatic steatosis	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0001397	HP:0001397	Hepatic steatosis	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4	.	19
HP:0001397	HP:0001397	Hepatic steatosis	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040280 - Obligate	19
HP:0001397	HP:0001397	Hepatic steatosis	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0001397	HP:0001397	Hepatic steatosis	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.	65
HP:0001397	HP:0001397	Hepatic steatosis	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent	65
HP:0001397	HP:0001397	Hepatic steatosis	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0001397	HP:0001397	Hepatic steatosis	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)		464
HP:0001397	HP:0001397	Hepatic steatosis	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		464
HP:0001397	HP:0001397	Hepatic steatosis	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0001397	HP:0001397	Hepatic steatosis	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0001397	HP:0001397	Hepatic steatosis	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0001397	HP:0001397	Hepatic steatosis	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0001397	HP:0001397	Hepatic steatosis	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0001397	HP:0001397	Hepatic steatosis	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0001397	HP:0001397	Hepatic steatosis	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0001397	HP:0001397	Hepatic steatosis	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001397	HP:0001397	Hepatic steatosis	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.	6
HP:0001397	HP:0001397	Hepatic steatosis	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0001397	HP:0001397	Hepatic steatosis	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0001397	HP:0001397	Hepatic steatosis	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0001397	HP:0001397	Hepatic steatosis	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001397	HP:0001397	Hepatic steatosis	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		125
HP:0001397	HP:0001397	Hepatic steatosis	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040283 - Occasional	8
HP:0001397	HP:0001397	Hepatic steatosis	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0001397	HP:0001397	Hepatic steatosis	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0001397	HP:0001397	Hepatic steatosis	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.	207
HP:0001397	HP:0001397	Hepatic steatosis	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040281 - Very frequent	82
HP:0001397	HP:0001397	Hepatic steatosis	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.	82
HP:0001397	HP:0001397	Hepatic steatosis	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent	82
HP:0001397	HP:0001397	Hepatic steatosis	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency		40
HP:0001397	HP:0001397	Hepatic steatosis	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001397	HP:0001397	Hepatic steatosis	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent	110
HP:0001397	HP:0001397	Hepatic steatosis	0	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4	HP:0040282 - Frequent	56
HP:0001397	HP:0001397	Hepatic steatosis	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4		56
HP:0001397	HP:0001397	Hepatic steatosis	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0001397	HP:0001397	Hepatic steatosis	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001397	HP:0001397	Hepatic steatosis	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent	60
HP:0001397	HP:0001397	Hepatic steatosis	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21	.	28
HP:0001397	HP:0001397	Hepatic steatosis	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0001397	HP:0001397	Hepatic steatosis	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)		1
HP:0001397	HP:0001397	Hepatic steatosis	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001397	HP:0001397	Hepatic steatosis	0	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP		4
HP:0001397	HP:0001397	Hepatic steatosis	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	HP:0040283 - Occasional	27
HP:0001397	HP:0001397	Hepatic steatosis	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040283 - Occasional	27
HP:0001397	HP:0001397	Hepatic steatosis	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0001397	HP:0001397	Hepatic steatosis	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		138
HP:0001397	HP:0001397	Hepatic steatosis	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001397	HP:0001397	Hepatic steatosis	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001397	HP:0001397	Hepatic steatosis	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63
HP:0001397	HP:0001397	Hepatic steatosis	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001397	HP:0001397	Hepatic steatosis	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0001397	HP:0001397	Hepatic steatosis	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	9
HP:0001397	HP:0001397	Hepatic steatosis	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001397	HP:0001397	Hepatic steatosis	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.	98
HP:0001397	HP:0006555	Diffuse hepatic steatosis	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.	35
HP:0001397	HP:0006555	Diffuse hepatic steatosis	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile	.	101
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent	11
HP:0001397	HP:0006573	Acute hepatic steatosis	1	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent	11
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040283 - Occasional	25
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	HP:0040283 - Occasional	80
HP:0001397	HP:0006555	Diffuse hepatic steatosis	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	99
HP:0001397	HP:0006555	Diffuse hepatic steatosis	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent	60
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional	1
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0001397	HP:0006573	Acute hepatic steatosis	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.	81
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16	.	13
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.	40
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional	464
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional	125
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.	1
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.	101
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.	101
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional	138
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001397	HP:0001403	Macrovesicular hepatic steatosis	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0001397	HP:0001414	Microvesicular hepatic steatosis	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2

Genes (150) :ABCG5 ABCG8 ABHD5 ACAD9 ACADM ACADS ACADVL ACOX1 ADK AGPAT2 AKR1D1 AKT2 ALDOB ALMS1 APOB APOE ARMC5 ATP6AP1 ATP6AP2 ATP7B BCS1L BLM BSCL2 CARS2 CASZ1 CAV1 CAVIN1 CBS CEP19 CIDEC CLPB COA8 COX15 CPT1A CPT2 CYP19A1 CYP7A1 DDOST DEF6 DGUOK DHCR7 DNAJC19 DOCK2 DPM1 EARS2 ETFA ETFB ETFDH FARSA FARSB FBP1 FOCAD FOS GABRD GNAS GNB2 GPD1 HADH HADHA HADHB HNF1B HNRNPA1 HNRNPA2B1 HSD17B4 HSPG2 IARS1 IFIH1 KCNAB2 KMT2B LARS1 LDLR LDLRAP1 LIG3 LIPA LIPE LMNA LMNB2 LRPPRC LUZP1 LYRM4 MARS1 MCCC1 MICOS13 MMP23B MPV17 MRPL3 MRPL44 MRPS7 MTTP MTX2 NAA10 NDUFAF1 NFS1 NGLY1 NHLRC2 NSMCE2 PCK1 PCK2 PCSK9 PDE11A PDE8B PDPN PGM1 PHKA2 PHKG2 PIGA PLIN1 PMM2 PNPLA2 POLD1 POLG POLR3A PPARG PRDM16 PRKACA PRKAR1A PRKCZ PTRH2 RERE RINT1 RMND1 RNU7-1 RRM2B SAR1B SCO1 SKI SLC22A5 SLC25A13 SLC25A20 SLC37A4 SLC40A1 SPEN SPTBN1 SUCLG1 TARS2 TBX1 TFAM TKFC TMEM199 TRAPPC11 TRMU TYMP UBE4B UNC45A VCP VPS33A VPS4A XRCC4 YARS1 ZPR1

Diseases (151) :ORPHA:391665 OMIM:275630 ORPHA:98907 ORPHA:99901 OMIM:611126 OMIM:201450 ORPHA:42 ORPHA:26792 OMIM:201475 OMIM:264470 OMIM:614300 ORPHA:528 OMIM:608594 ORPHA:79303 ORPHA:79085 OMIM:229600 ORPHA:64 OMIM:203800 ORPHA:412 ORPHA:189427 OMIM:300972 OMIM:301045 ORPHA:905 OMIM:277900 ORPHA:53693 OMIM:124000 OMIM:210900 OMIM:269700 ORPHA:363400 OMIM:616672 ORPHA:1606 OMIM:612526 OMIM:613327 OMIM:236200 OMIM:615703 ORPHA:435651 OMIM:615238 ORPHA:445038 OMIM:616271 ORPHA:436271 OMIM:615119 OMIM:255120 ORPHA:228308 ORPHA:228305 OMIM:600649 OMIM:608836 ORPHA:91 ORPHA:209902 ORPHA:300536 OMIM:619573 OMIM:251880 OMIM:270400 OMIM:610198 ORPHA:66634 OMIM:616433 ORPHA:79322 OMIM:614924 OMIM:231680 OMIM:619013 OMIM:613658 ORPHA:348 OMIM:619991 OMIM:619503 OMIM:614480 OMIM:231530 ORPHA:71212 ORPHA:746 ORPHA:93111 ORPHA:52430 OMIM:261515 ORPHA:541423 OMIM:617093 OMIM:615846 OMIM:619934 OMIM:615438 ORPHA:298 OMIM:278000 ORPHA:435660 OMIM:615980 ORPHA:79474 ORPHA:280365 ORPHA:2348 ORPHA:79084 OMIM:151660 ORPHA:79087 ORPHA:70472 OMIM:220111 OMIM:615595 OMIM:615486 OMIM:210200 OMIM:618329 OMIM:618400 OMIM:256810 OMIM:614582 OMIM:615395 OMIM:617872 ORPHA:14 OMIM:619127 OMIM:300855 OMIM:618234 OMIM:619386 ORPHA:404454 OMIM:618278 ORPHA:436182 OMIM:617253 OMIM:261680 OMIM:261650 ORPHA:189439 OMIM:614921 ORPHA:264580 OMIM:300868 OMIM:613877 ORPHA:280356 OMIM:212065 OMIM:610717 ORPHA:98908 OMIM:615381 OMIM:203700 ORPHA:3455 OMIM:604367 ORPHA:79083 OMIM:616263 OMIM:618641 OMIM:614922 OMIM:619487 ORPHA:71 OMIM:619048 OMIM:212140 ORPHA:247585 OMIM:603471 ORPHA:247598 OMIM:212138 OMIM:619525 ORPHA:79259 ORPHA:139491 OMIM:606069 OMIM:619475 ORPHA:17 OMIM:615918 OMIM:188400 OMIM:617156 OMIM:618805 OMIM:616829 OMIM:615356 ORPHA:369840 OMIM:613070 OMIM:619377 OMIM:617303 OMIM:619273 OMIM:619418 OMIM:619321

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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