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:

The presence of steatosis in the liver.

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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001397	HP:0001397	Hepatic steatosis	0	ABCG5 CL E G H	64240	391665				ORPHA	1	47	201	13886	605459
HP:0001397	HP:0001397	Hepatic steatosis	0	ABCG8 CL E G H	64241	391665				ORPHA	1	51	293	13887	605460
HP:0001397	HP:0001397	Hepatic steatosis	0	ABHD5 CL E G H	51099	98907				ORPHA	1	39	155	21396	604780
HP:0001397	HP:0001397	Hepatic steatosis	0	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	39	155	21396	604780
HP:0001397	HP:0001397	Hepatic steatosis	0	ACAD9 CL E G H	28976	99901				ORPHA	1	61	217	21497	611103
HP:0001397	HP:0001397	Hepatic steatosis	0	ACADL CL E G H	33	99900				ORPHA	1	2	33	88	609576
HP:0001397	HP:0001397	Hepatic steatosis	0	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	171	389	89	607008
HP:0001397	HP:0001397	Hepatic steatosis	0	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	283	767	92	609575
HP:0001397	HP:0001397	Hepatic steatosis	0	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	15	64	257	102750
HP:0001397	HP:0001397	Hepatic steatosis	0	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	43	189	325	603100
HP:0001397	HP:0001397	Hepatic steatosis	0	AKT2 CL E G H	208	79085				ORPHA	1	7	46	392	164731
HP:0001397	HP:0001397	Hepatic steatosis	0	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	67	210	417	612724
HP:0001397	HP:0001397	Hepatic steatosis	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	316	1745	428	606844
HP:0001397	HP:0001397	Hepatic steatosis	0	APOB CL E G H	338	391665				ORPHA	1	333	2169	603	107730
HP:0001397	HP:0001397	Hepatic steatosis	0	APOE CL E G H	348	412				ORPHA	1	64	62	613	107741
HP:0001397	HP:0001397	Hepatic steatosis	0	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	5	233	868	300197
HP:0001397	HP:0001397	Hepatic steatosis	0	ATP7B CL E G H	540	905				ORPHA	1	938	958	870	606882
HP:0001397	HP:0001397	Hepatic steatosis	0	BCS1L CL E G H	617	53693				ORPHA	1	37	174	1020	603647
HP:0001397	HP:0001397	Hepatic steatosis	0	BSCL2 CL E G H	26580	363400				ORPHA	1	50	263	15832	606158
HP:0001397	HP:0001397	Hepatic steatosis	0	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	50	263	15832	606158
HP:0001397	HP:0001397	Hepatic steatosis	0	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	13	62	1527	601047
HP:0001397	HP:0001397	Hepatic steatosis	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	15	94	9688	603198
HP:0001397	HP:0001397	Hepatic steatosis	0	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	214	611	1550	613381
HP:0001397	HP:0001397	Hepatic steatosis	0	CIDEC CL E G H	63924	435651				ORPHA	1	1	62	24229	612120
HP:0001397	HP:0001397	Hepatic steatosis	0	CIDEC CL E G H	63924	615238	Familial partial lipodystrophy 5	615238	C3808940	OMIM	1	1	62	24229	612120
HP:0001397	HP:0001397	Hepatic steatosis	0	COX15 CL E G H	1355	615119	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	615119	C3554534	OMIM	1	5	188	2263	603646
HP:0001397	HP:0001397	Hepatic steatosis	0	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	53	239	2328	600528
HP:0001397	HP:0001397	Hepatic steatosis	0	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	73	151	2594	107910
HP:0001397	HP:0001397	Hepatic steatosis	0	DDOST CL E G H	1650	300536				ORPHA	1	2	106	2728	602202
HP:0001397	HP:0001397	Hepatic steatosis	0	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	64	122	2858	601465
HP:0001397	HP:0001397	Hepatic steatosis	0	ETFA CL E G H	2108	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	30	124	3481	608053
HP:0001397	HP:0001397	Hepatic steatosis	0	ETFB CL E G H	2109	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	15	106	3482	130410
HP:0001397	HP:0001397	Hepatic steatosis	0	ETFDH CL E G H	2110	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	191	256	3483	231675
HP:0001397	HP:0001397	Hepatic steatosis	0	GPD1 CL E G H	2819	614480	Hypertriglyceridemia, transient infantile	614480	C3280953	OMIM	1	10	28	4455	138420
HP:0001397	HP:0001397	Hepatic steatosis	0	GPIHBP1 CL E G H	338328	444490	Familial chylomicronemia syndrome		CN231410	ORPHA	1	34	75	24945	612757
HP:0001397	HP:0001397	Hepatic steatosis	0	HADH CL E G H	3033	71212				ORPHA	1	26	94	4799	601609
HP:0001397	HP:0001397	Hepatic steatosis	0	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	26	94	4799	601609
HP:0001397	HP:0001397	Hepatic steatosis	0	HFE CL E G H	3077	465508				ORPHA	1	61	103	4886	613609
HP:0001397	HP:0001397	Hepatic steatosis	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	101	305	5213	601860
HP:0001397	HP:0001397	Hepatic steatosis	0	LARS CL E G H	51520	615438	Infantile liver failure syndrome 1	615438	C3809522	OMIM	1	7		6512	151350
HP:0001397	HP:0001397	Hepatic steatosis	0	LDLR CL E G H	3949	391665				ORPHA	1	2231	3045	6547	606945
HP:0001397	HP:0001397	Hepatic steatosis	0	LDLRAP1 CL E G H	26119	391665				ORPHA	1	26	181	18640	605747
HP:0001397	HP:0001397	Hepatic steatosis	0	LIPA CL E G H	3988	278000	Lysosomal acid lipase deficiency	278000	C0043208	OMIM	1	96	246	6617	613497
HP:0001397	HP:0001397	Hepatic steatosis	0	LIPE CL E G H	3991	435660				ORPHA	1	8	49	6621	151750
HP:0001397	HP:0001397	Hepatic steatosis	0	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	1	8	49	6621	151750
HP:0001397	HP:0001397	Hepatic steatosis	0	LMF1 CL E G H	64788	444490	Familial chylomicronemia syndrome		CN231410	ORPHA	1	22	99	14154	611761
HP:0001397	HP:0001397	Hepatic steatosis	0	LMNA CL E G H	4000	79474				ORPHA	1	574	1152	6636	150330
HP:0001397	HP:0001397	Hepatic steatosis	0	LMNA CL E G H	4000	280365				ORPHA	1	574	1152	6636	150330
HP:0001397	HP:0001397	Hepatic steatosis	0	LMNA CL E G H	4000	79084				ORPHA	1	574	1152	6636	150330
HP:0001397	HP:0001397	Hepatic steatosis	0	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	574	1152	6636	150330
HP:0001397	HP:0001397	Hepatic steatosis	0	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	574	1152	6636	150330
HP:0001397	HP:0001397	Hepatic steatosis	0	LYRM4 CL E G H	57128	615595	Combined oxidative phosphorylation deficiency 19	615595	C3810055	OMIM	1	5	90	21365	613311
HP:0001397	HP:0001397	Hepatic steatosis	0	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1	17		6898	156560
HP:0001397	HP:0001397	Hepatic steatosis	0	MRPS7 CL E G H	51081	617872	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34	617872	CN807947	OMIM	1	1	43	14499	611974
HP:0001397	HP:0001397	Hepatic steatosis	0	NSMCE2 CL E G H	286053	436182				ORPHA	1	2	57	26513	617246
HP:0001397	HP:0001397	Hepatic steatosis	0	NSMCE2 CL E G H	286053	617253	Seckel syndrome 10	617253	C4310647	OMIM	1	2	57	26513	617246
HP:0001397	HP:0001397	Hepatic steatosis	0	PCK1 CL E G H	5105	261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	261680	C1849814	OMIM	1	10	123	8724	614168
HP:0001397	HP:0001397	Hepatic steatosis	0	PCK2 CL E G H	5106	261650	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial	261650	C1849821	OMIM	1	2	58	8725	614095
HP:0001397	HP:0001397	Hepatic steatosis	0	PCSK9 CL E G H	255738	391665				ORPHA	1	111	722	20001	607786
HP:0001397	HP:0001397	Hepatic steatosis	0	PGM1 CL E G H	5236	614921	Congenital disorder of glycosylation type 1t	614921	C2752015	OMIM	1	35	162	8905	171900
HP:0001397	HP:0001397	Hepatic steatosis	0	PLIN1 CL E G H	5346	280356				ORPHA	1	10	71	9076	170290
HP:0001397	HP:0001397	Hepatic steatosis	0	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	10	71	9076	170290
HP:0001397	HP:0001397	Hepatic steatosis	0	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	129	363	9115	601785
HP:0001397	HP:0001397	Hepatic steatosis	0	PNPLA2 CL E G H	57104	98908				ORPHA	1	49	277	30802	609059
HP:0001397	HP:0001397	Hepatic steatosis	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	49	277	30802	609059
HP:0001397	HP:0001397	Hepatic steatosis	0	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	32	2249	9175	174761
HP:0001397	HP:0001397	Hepatic steatosis	0	PPARG CL E G H	5468	604367	Familial partial lipodystrophy 3	604367	C1720861	OMIM	1	54	90	9236	601487
HP:0001397	HP:0001397	Hepatic steatosis	0	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	16	97	21176	614917
HP:0001397	HP:0001397	Hepatic steatosis	0	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	161	492	10969	603377
HP:0001397	HP:0001397	Hepatic steatosis	0	SLC25A13 CL E G H	10165	603471	Citrullinemia type II	603471	C1863844	OMIM	1	115	229	10983	603859
HP:0001397	HP:0001397	Hepatic steatosis	0	SLC40A1 CL E G H	30061	139491				ORPHA	1	67	134	10909	604653
HP:0001397	HP:0001397	Hepatic steatosis	0	TARS2 CL E G H	80222	615918	Combined oxidative phosphorylation deficiency 21	615918	C4014668	OMIM	1	3	77	30740	612805
HP:0001397	HP:0001397	Hepatic steatosis	0	XRCC4 CL E G H	7518	436182				ORPHA	1	15	37	12831	194363
HP:0001397	HP:0001397	Hepatic steatosis	0	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	34	136	12877	606480
HP:0001397	HP:0001397	Hepatic steatosis	1	ABCG5 CL E G H	64240	391665				ORPHA	1	47	201	13886	605459
HP:0001397	HP:0001397	Hepatic steatosis	1	ABCG8 CL E G H	64241	391665				ORPHA	1	51	293	13887	605460
HP:0001397	HP:0001397	Hepatic steatosis	1	ABHD5 CL E G H	51099	98907				ORPHA	1	39	155	21396	604780
HP:0001397	HP:0001397	Hepatic steatosis	1	ABHD5 CL E G H	51099	275630	Triglyceride storage disease with ichthyosis	275630	C0268238	OMIM	1	39	155	21396	604780
HP:0001397	HP:0001397	Hepatic steatosis	1	ACAD9 CL E G H	28976	99901				ORPHA	1	61	217	21497	611103
HP:0001397	HP:0001397	Hepatic steatosis	1	ACADL CL E G H	33	99900				ORPHA	1	2	33	88	609576
HP:0001397	HP:0001397	Hepatic steatosis	1	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	171	389	89	607008
HP:0001397	HP:0001397	Hepatic steatosis	1	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	283	767	92	609575
HP:0001397	HP:0001397	Hepatic steatosis	1	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	15	64	257	102750
HP:0001397	HP:0001397	Hepatic steatosis	1	AGPAT2 CL E G H	10555	608594	Congenital generalized lipodystrophy type 1	608594	C1720862	OMIM	1	43	189	325	603100
HP:0001397	HP:0001397	Hepatic steatosis	1	AKT2 CL E G H	208	79085				ORPHA	1	7	46	392	164731
HP:0001397	HP:0001397	Hepatic steatosis	1	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	67	210	417	612724
HP:0001397	HP:0001397	Hepatic steatosis	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	316	1745	428	606844
HP:0001397	HP:0001397	Hepatic steatosis	1	APOB CL E G H	338	391665				ORPHA	1	333	2169	603	107730
HP:0001397	HP:0001397	Hepatic steatosis	1	APOE CL E G H	348	412				ORPHA	1	64	62	613	107741
HP:0001397	HP:0001397	Hepatic steatosis	1	ATP6AP1 CL E G H	537	300972	Immunodeficiency 47	300972	C4310819	OMIM	1	5	233	868	300197
HP:0001397	HP:0001397	Hepatic steatosis	1	ATP7B CL E G H	540	905				ORPHA	1	938	958	870	606882
HP:0001397	HP:0001397	Hepatic steatosis	1	BCS1L CL E G H	617	53693				ORPHA	1	37	174	1020	603647
HP:0001397	HP:0001397	Hepatic steatosis	1	BSCL2 CL E G H	26580	363400				ORPHA	1	50	263	15832	606158
HP:0001397	HP:0001397	Hepatic steatosis	1	BSCL2 CL E G H	26580	269700	Congenital generalized lipodystrophy type 2	269700	C1720863	OMIM	1	50	263	15832	606158
HP:0001397	HP:0001397	Hepatic steatosis	1	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	13	62	1527	601047
HP:0001397	HP:0001397	Hepatic steatosis	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	15	94	9688	603198
HP:0001397	HP:0001397	Hepatic steatosis	1	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	214	611	1550	613381
HP:0001397	HP:0001397	Hepatic steatosis	1	CIDEC CL E G H	63924	435651				ORPHA	1	1	62	24229	612120
HP:0001397	HP:0001397	Hepatic steatosis	1	CIDEC CL E G H	63924	615238	Familial partial lipodystrophy 5	615238	C3808940	OMIM	1	1	62	24229	612120
HP:0001397	HP:0001397	Hepatic steatosis	1	COX15 CL E G H	1355	615119	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	615119	C3554534	OMIM	1	5	188	2263	603646
HP:0001397	HP:0001397	Hepatic steatosis	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	53	239	2328	600528
HP:0001397	HP:0001397	Hepatic steatosis	1	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	73	151	2594	107910
HP:0001397	HP:0001397	Hepatic steatosis	1	DDOST CL E G H	1650	300536				ORPHA	1	2	106	2728	602202
HP:0001397	HP:0001397	Hepatic steatosis	1	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	64	122	2858	601465
HP:0001397	HP:0001397	Hepatic steatosis	1	ETFA CL E G H	2108	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	30	124	3481	608053
HP:0001397	HP:0001397	Hepatic steatosis	1	ETFB CL E G H	2109	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	15	106	3482	130410
HP:0001397	HP:0001397	Hepatic steatosis	1	ETFDH CL E G H	2110	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	191	256	3483	231675
HP:0001397	HP:0001397	Hepatic steatosis	1	GPD1 CL E G H	2819	614480	Hypertriglyceridemia, transient infantile	614480	C3280953	OMIM	1	10	28	4455	138420
HP:0001397	HP:0001397	Hepatic steatosis	1	GPIHBP1 CL E G H	338328	444490	Familial chylomicronemia syndrome		CN231410	ORPHA	1	34	75	24945	612757
HP:0001397	HP:0001397	Hepatic steatosis	1	HADH CL E G H	3033	71212				ORPHA	1	26	94	4799	601609
HP:0001397	HP:0001397	Hepatic steatosis	1	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	26	94	4799	601609
HP:0001397	HP:0001397	Hepatic steatosis	1	HFE CL E G H	3077	465508				ORPHA	1	61	103	4886	613609
HP:0001397	HP:0001397	Hepatic steatosis	1	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	101	305	5213	601860
HP:0001397	HP:0001397	Hepatic steatosis	1	LARS CL E G H	51520	615438	Infantile liver failure syndrome 1	615438	C3809522	OMIM	1	7		6512	151350
HP:0001397	HP:0001397	Hepatic steatosis	1	LDLR CL E G H	3949	391665				ORPHA	1	2231	3045	6547	606945
HP:0001397	HP:0001397	Hepatic steatosis	1	LDLRAP1 CL E G H	26119	391665				ORPHA	1	26	181	18640	605747
HP:0001397	HP:0001397	Hepatic steatosis	1	LIPA CL E G H	3988	278000	Lysosomal acid lipase deficiency	278000	C0043208	OMIM	1	96	246	6617	613497
HP:0001397	HP:0001397	Hepatic steatosis	1	LIPE CL E G H	3991	435660				ORPHA	1	8	49	6621	151750
HP:0001397	HP:0001397	Hepatic steatosis	1	LIPE CL E G H	3991	615980	Familial partial lipodystrophy 6	615980	C4014869	OMIM	1	8	49	6621	151750
HP:0001397	HP:0001397	Hepatic steatosis	1	LMF1 CL E G H	64788	444490	Familial chylomicronemia syndrome		CN231410	ORPHA	1	22	99	14154	611761
HP:0001397	HP:0001397	Hepatic steatosis	1	LMNA CL E G H	4000	280365				ORPHA	1	574	1152	6636	150330
HP:0001397	HP:0001397	Hepatic steatosis	1	LMNA CL E G H	4000	79084				ORPHA	1	574	1152	6636	150330
HP:0001397	HP:0001397	Hepatic steatosis	1	LMNA CL E G H	4000	79474				ORPHA	1	574	1152	6636	150330
HP:0001397	HP:0001397	Hepatic steatosis	1	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	574	1152	6636	150330
HP:0001397	HP:0001397	Hepatic steatosis	1	LMNA CL E G H	4000	151660	Familial partial lipodystrophy 2	151660	C1720860	OMIM	1	574	1152	6636	150330
HP:0001397	HP:0001397	Hepatic steatosis	1	LYRM4 CL E G H	57128	615595	Combined oxidative phosphorylation deficiency 19	615595	C3810055	OMIM	1	5	90	21365	613311
HP:0001397	HP:0001397	Hepatic steatosis	1	MARS CL E G H	4141	615486	Interstitial lung and liver disease	615486	C4225400	OMIM	1	17		6898	156560
HP:0001397	HP:0001397	Hepatic steatosis	1	MRPS7 CL E G H	51081	617872	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34	617872	CN807947	OMIM	1	1	43	14499	611974
HP:0001397	HP:0001397	Hepatic steatosis	1	NSMCE2 CL E G H	286053	436182				ORPHA	1	2	57	26513	617246
HP:0001397	HP:0001397	Hepatic steatosis	1	NSMCE2 CL E G H	286053	617253	Seckel syndrome 10	617253	C4310647	OMIM	1	2	57	26513	617246
HP:0001397	HP:0001397	Hepatic steatosis	1	PCK1 CL E G H	5105	261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	261680	C1849814	OMIM	1	10	123	8724	614168
HP:0001397	HP:0001397	Hepatic steatosis	1	PCK2 CL E G H	5106	261650	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial	261650	C1849821	OMIM	1	2	58	8725	614095
HP:0001397	HP:0001397	Hepatic steatosis	1	PCSK9 CL E G H	255738	391665				ORPHA	1	111	722	20001	607786
HP:0001397	HP:0001397	Hepatic steatosis	1	PGM1 CL E G H	5236	614921	Congenital disorder of glycosylation type 1t	614921	C2752015	OMIM	1	35	162	8905	171900
HP:0001397	HP:0001397	Hepatic steatosis	1	PLIN1 CL E G H	5346	280356				ORPHA	1	10	71	9076	170290
HP:0001397	HP:0001397	Hepatic steatosis	1	PLIN1 CL E G H	5346	613877	Familial partial lipodystrophy 4	613877	C3151268	OMIM	1	10	71	9076	170290
HP:0001397	HP:0001397	Hepatic steatosis	1	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	129	363	9115	601785
HP:0001397	HP:0001397	Hepatic steatosis	1	PNPLA2 CL E G H	57104	98908				ORPHA	1	49	277	30802	609059
HP:0001397	HP:0001397	Hepatic steatosis	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	49	277	30802	609059
HP:0001397	HP:0001397	Hepatic steatosis	1	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	32	2249	9175	174761
HP:0001397	HP:0001397	Hepatic steatosis	1	PPARG CL E G H	5468	604367	Familial partial lipodystrophy 3	604367	C1720861	OMIM	1	54	90	9236	601487
HP:0001397	HP:0001397	Hepatic steatosis	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	16	97	21176	614917
HP:0001397	HP:0001397	Hepatic steatosis	1	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	161	492	10969	603377
HP:0001397	HP:0001397	Hepatic steatosis	1	SLC25A13 CL E G H	10165	603471	Citrullinemia type II	603471	C1863844	OMIM	1	115	229	10983	603859
HP:0001397	HP:0001397	Hepatic steatosis	1	SLC40A1 CL E G H	30061	139491				ORPHA	1	67	134	10909	604653
HP:0001397	HP:0001397	Hepatic steatosis	1	TARS2 CL E G H	80222	615918	Combined oxidative phosphorylation deficiency 21	615918	C4014668	OMIM	1	3	77	30740	612805
HP:0001397	HP:0001397	Hepatic steatosis	1	XRCC4 CL E G H	7518	436182				ORPHA	1	15	37	12831	194363
HP:0001397	HP:0001397	Hepatic steatosis	1	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	34	136	12877	606480
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001397	HP:0001397	Hepatic steatosis	0	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	0	43	189	325	603100
HP:0001397	HP:0001397	Hepatic steatosis	0	ALMS1 CL E G H	7840	64				ORPHA	0	316	1745	428	606844
HP:0001397	HP:0001397	Hepatic steatosis	0	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	0	50	263	15832	606158
HP:0001397	HP:0001397	Hepatic steatosis	0	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	0	13	62	1527	601047
HP:0001397	HP:0001397	Hepatic steatosis	0	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	0	15	94	9688	603198
HP:0001397	HP:0001397	Hepatic steatosis	0	CEP19 CL E G H	84984	615703	Morbid obesity and spermatogenic failure	615703	C3810324	OMIM	0	2	111	28209	615586
HP:0001397	HP:0001397	Hepatic steatosis	0	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	0	2	28	3796	164810
HP:0001397	HP:0001397	Hepatic steatosis	0	GABRD CL E G H	2563	1606				ORPHA	0	7	278	4084	137163
HP:0001397	HP:0001397	Hepatic steatosis	0	HNF1B CL E G H	6928	93111				ORPHA	0	240	488	11630	189907
HP:0001397	HP:0001397	Hepatic steatosis	0	HNF4A CL E G H	3172	93111				ORPHA	0	157	283	5024	600281
HP:0001397	HP:0001397	Hepatic steatosis	0	HNRNPA1 CL E G H	3178	52430				ORPHA	0	12	53	5031	164017
HP:0001397	HP:0001397	Hepatic steatosis	0	HNRNPA2B1 CL E G H	3181	52430				ORPHA	0	5	73	5033	600124
HP:0001397	HP:0001397	Hepatic steatosis	0	IARS CL E G H	3376	617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	617093	C4310720	OMIM	0	15		5330	600709
HP:0001397	HP:0001397	Hepatic steatosis	0	KCNAB2 CL E G H	8514	1606				ORPHA	0	5	85	6229	601142
HP:0001397	HP:0001397	Hepatic steatosis	0	LMNA CL E G H	4000	2348				ORPHA	0	574	1152	6636	150330
HP:0001397	HP:0001397	Hepatic steatosis	0	LMNB2 CL E G H	84823	79087				ORPHA	0	5	199	6638	150341
HP:0001397	HP:0001397	Hepatic steatosis	0	PPARG CL E G H	5468	79083				ORPHA	0	54	90	9236	601487
HP:0001397	HP:0001397	Hepatic steatosis	0	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	0	54	90	9236	601487
HP:0001397	HP:0001397	Hepatic steatosis	0	PRDM16 CL E G H	63976	1606				ORPHA	0	21	677	14000	605557
HP:0001397	HP:0001397	Hepatic steatosis	0	RERE CL E G H	473	1606				ORPHA	0	25	161	9965	605226
HP:0001397	HP:0001397	Hepatic steatosis	0	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	0	16	37	10535	607690
HP:0001397	HP:0001397	Hepatic steatosis	0	SKI CL E G H	6497	1606				ORPHA	0	24	502	10896	164780
HP:0001397	HP:0001397	Hepatic steatosis	0	TMEM199 CL E G H	147007	616829	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp	616829	C4225190	OMIM	0	5	26	18085	616815
HP:0001397	HP:0001397	Hepatic steatosis	0	TRAPPC11 CL E G H	60684	369840				ORPHA	0	17	351	25751	614138
HP:0001397	HP:0001397	Hepatic steatosis	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	0	17	351	25751	614138
HP:0001397	HP:0001397	Hepatic steatosis	0	VCP CL E G H	7415	52430				ORPHA	0	65	260	12666	601023
HP:0001397	HP:0001397	Hepatic steatosis	1	AGPAT2 CL E G H	10555	528	Acute myeloblastic leukemia type 3			ORPHA	0	43	189	325	603100
HP:0001397	HP:0001397	Hepatic steatosis	1	ALMS1 CL E G H	7840	64				ORPHA	0	316	1745	428	606844
HP:0001397	HP:0001397	Hepatic steatosis	1	BSCL2 CL E G H	26580	528	Acute myeloblastic leukemia type 3			ORPHA	0	50	263	15832	606158
HP:0001397	HP:0001397	Hepatic steatosis	1	CAV1 CL E G H	857	528	Acute myeloblastic leukemia type 3			ORPHA	0	13	62	1527	601047
HP:0001397	HP:0001397	Hepatic steatosis	1	CAVIN1 CL E G H	284119	528	Acute myeloblastic leukemia type 3			ORPHA	0	15	94	9688	603198
HP:0001397	HP:0001397	Hepatic steatosis	1	CEP19 CL E G H	84984	615703	Morbid obesity and spermatogenic failure	615703	C3810324	OMIM	0	2	111	28209	615586
HP:0001397	HP:0001397	Hepatic steatosis	1	FOS CL E G H	2353	528	Acute myeloblastic leukemia type 3			ORPHA	0	2	28	3796	164810
HP:0001397	HP:0001397	Hepatic steatosis	1	GABRD CL E G H	2563	1606				ORPHA	0	7	278	4084	137163
HP:0001397	HP:0001397	Hepatic steatosis	1	HNF1B CL E G H	6928	93111				ORPHA	0	240	488	11630	189907
HP:0001397	HP:0001397	Hepatic steatosis	1	HNF4A CL E G H	3172	93111				ORPHA	0	157	283	5024	600281
HP:0001397	HP:0001397	Hepatic steatosis	1	HNRNPA1 CL E G H	3178	52430				ORPHA	0	12	53	5031	164017
HP:0001397	HP:0001397	Hepatic steatosis	1	HNRNPA2B1 CL E G H	3181	52430				ORPHA	0	5	73	5033	600124
HP:0001397	HP:0001397	Hepatic steatosis	1	IARS CL E G H	3376	617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	617093	C4310720	OMIM	0	15		5330	600709
HP:0001397	HP:0001397	Hepatic steatosis	1	KCNAB2 CL E G H	8514	1606				ORPHA	0	5	85	6229	601142
HP:0001397	HP:0001397	Hepatic steatosis	1	LMNA CL E G H	4000	2348				ORPHA	0	574	1152	6636	150330
HP:0001397	HP:0001397	Hepatic steatosis	1	LMNB2 CL E G H	84823	79087				ORPHA	0	5	199	6638	150341
HP:0001397	HP:0001397	Hepatic steatosis	1	PPARG CL E G H	5468	79083				ORPHA	0	54	90	9236	601487
HP:0001397	HP:0001397	Hepatic steatosis	1	PPARG CL E G H	5468	528	Acute myeloblastic leukemia type 3			ORPHA	0	54	90	9236	601487
HP:0001397	HP:0001397	Hepatic steatosis	1	PRDM16 CL E G H	63976	1606				ORPHA	0	21	677	14000	605557
HP:0001397	HP:0001397	Hepatic steatosis	1	RERE CL E G H	473	1606				ORPHA	0	25	161	9965	605226
HP:0001397	HP:0001397	Hepatic steatosis	1	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	0	16	37	10535	607690
HP:0001397	HP:0001397	Hepatic steatosis	1	SKI CL E G H	6497	1606				ORPHA	0	24	502	10896	164780
HP:0001397	HP:0001397	Hepatic steatosis	1	TMEM199 CL E G H	147007	616829	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp	616829	C4225190	OMIM	0	5	26	18085	616815
HP:0001397	HP:0001397	Hepatic steatosis	1	TRAPPC11 CL E G H	60684	369840				ORPHA	0	17	351	25751	614138
HP:0001397	HP:0001397	Hepatic steatosis	1	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	0	17	351	25751	614138
HP:0001397	HP:0001397	Hepatic steatosis	1	VCP CL E G H	7415	52430				ORPHA	0	65	260	12666	601023

Genes (100) :ABCG5 ABCG8 ABHD5 ACAD9 ACADL ACADM ACADVL ACOX1 ADK AGPAT2 AKT2 ALDOB ALMS1 APOB APOE ATP6AP1 ATP7B BCS1L BSCL2 CARS2 CAV1 CAVIN1 CBS CEP19 CIDEC COA8 COG6 COX15 CPT1A CPT2 CYP19A1 CYP7A1 DDOST DGUOK DNAJC19 EARS2 ETFA ETFB ETFDH FOS GABRD GPD1 GPIHBP1 HADH HADHA HADHB HFE HNF1B HNF4A HNRNPA1 HNRNPA2B1 HSD17B4 IARS KCNAB2 LARS LDLR LDLRAP1 LIPA LIPE LMF1 LMNA LMNB2 LRPPRC LYRM4 MARS MCCC1 MPV17 MRPL44 MRPS7 NDUFAF1 NSMCE2 PCK1 PCK2 PCSK9 PGM1 PLIN1 PMM2 PNPLA2 POLD1 POLG PPARG PRDM16 RERE RMND1 RRM2B SAR1B SKI SLC22A5 SLC25A13 SLC40A1 TARS2 TFAM TMEM199 TRAPPC11 TRMU TYMP VCP VPS33A XRCC4 ZMPSTE24

Diseases (101) :391665 98907 275630 99901 99900 201450 201475 614300 528 608594 79085 229600 64 203800 412 300972 905 53693 363400 269700 612526 613327 236200 615703 435651 615238 615119 255120 91 300536 251880 231680 1606 614480 444490 71212 231530 465508 93111 52430 261515 617093 615438 278000 435660 615980 2348 79084 280365 79474 740 151660 79087 615595 615486 617872 436182 617253 261680 261650 614921 280356 613877 212065 98908 610717 615381 79083 604367 614922 71 212140 603471 139491 615918 616829 369840 615356 611126 264470 124000 616672 436271 614576 600649 608836 209902 66634 610198 614924 746 220111 210200 256810 615395 618234 298 203700 617156 613070 617303

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.

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