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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile	.	101
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0001403	HP:0001403	Macrovesicular 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:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	HP:0040283 - Occasional	80
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional	1
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.	40
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional	464
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional	125
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.	101
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional	138
HP:0001403	HP:0001403	Macrovesicular hepatic steatosis	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1

Genes (16) :CPT2 CYP7A1 DOCK2 EARS2 LIG3 LYRM4 MICOS13 MPV17 MTX2 NAA10 NDUFAF1 POLG RRM2B TRMU TYMP VPS33A

Diseases (14) :OMIM:600649 OMIM:608836 ORPHA:209902 OMIM:616433 OMIM:614924 ORPHA:298 OMIM:615595 OMIM:618329 OMIM:256810 OMIM:619127 OMIM:300855 OMIM:618234 OMIM:613070 OMIM:617303

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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