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
..Microvesicular hepatic steatosis (HP:0001414)

Term ID:

1414

Name:

Microvesicular hepatic steatosis

Synonym:

Microvesicular steatosis

Definition:

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

Comments:

Reference:

HP:0001414

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute hepatic steatosis (HP:0006573)

Diffuse hepatic steatosis (HP:0006555)

Macrovesicular hepatic steatosis (HP:0001403)

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:0001414	HP:0001414	Microvesicular hepatic steatosis	0	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	771	21497	611103
HP:0001414	HP:0001414	Microvesicular hepatic steatosis	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	413	1020	603647
HP:0001414	HP:0001414	Microvesicular hepatic steatosis	0	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1	825	25695	612800
HP:0001414	HP:0001414	Microvesicular hepatic steatosis	0	DNAJC19 CL E G H	131118	610198	3-methylglutaconic aciduria type V	610198	C1857776	OMIM	1	142	30528	608977
HP:0001414	HP:0001414	Microvesicular hepatic steatosis	0	LRPPRC CL E G H	10128	220111	Leigh syndrome, French Canadian type	220111	C1857355	OMIM	1	1479	15714	607544
HP:0001414	HP:0001414	Microvesicular hepatic steatosis	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	264	7224	137960
HP:0001414	HP:0001414	Microvesicular hepatic steatosis	0	MRPL44 CL E G H	65080	615395	Combined oxidative phosphorylation deficiency 16	615395	C3809339	OMIM	1	152	16650	611849
HP:0001414	HP:0001414	Microvesicular hepatic steatosis	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	2324	9179	174763
HP:0001414	HP:0001414	Microvesicular hepatic steatosis	0	TFAM CL E G H	7019	617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	617156	C4310690	OMIM	1	78	11741	600438
HP:0001414	HP:0001414	Microvesicular hepatic steatosis	0	TRMU CL E G H	55687	613070	Liver failure acute infantile	613070	C3278664	OMIM	1	623	25481	610230
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001414	HP:0001414	Microvesicular hepatic steatosis	0	DNAJC19 CL E G H	131118	66634				ORPHA	0	142	30528	608977

Genes (10) :ACAD9 BCS1L CARS2 DNAJC19 LRPPRC MPV17 MRPL44 POLG TFAM TRMU

Diseases (11) :611126 124000 616672 66634 610198 220111 256810 615395 203700 617156 613070

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

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