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:
Lipid accumulation in hepatocytes (HP:0006561)

Parent Node:
Hepatic steatosis (HP:0001397)

..Starting node
..Macrovesicular hepatic steatosis (HP:0001403)

Term ID:

1403

Name:

Macrovesicular hepatic steatosis

Synonym:

Macrovesicular steatosis

Definition:

A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.

Comments:

Reference:

HP:0001403

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute hepatic steatosis (HP:0006573)

Diffuse hepatic steatosis (HP:0006555)

Microvesicular hepatic steatosis (HP:0001414)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	876	2330	600650
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	876	2330	600650
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	CYP7A1 CL E G H	1581	209902				ORPHA	1	145	2651	118455
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	264	7224	137960
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	NDUFAF1 CL E G H	51103	618234	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234		OMIM	1	154	18828	606934
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	TRMU CL E G H	55687	613070	Liver failure acute infantile	613070	C3278664	OMIM	1	623	25481	610230
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	VPS33A CL E G H	65082	617303	Mucopolysaccharidosis-plus syndrome	617303	C4310627	OMIM	1	274	18179	610034
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	0	366	18621	606977
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	0	336	29419	612799
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	0	2324	9179	174763
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	0	354	17296	604712
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	0	895	3148	131222

Genes (11) :COG6 CPT2 CYP7A1 EARS2 MPV17 NDUFAF1 POLG RRM2B TRMU TYMP VPS33A

Diseases (10) :614576 600649 608836 209902 614924 256810 618234 298 613070 617303

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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