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
..Diffuse hepatic steatosis (HP:0006555)

Term ID:

6555

Name:

Diffuse hepatic steatosis

Synonym:

Hepatic steatosis, diffuse

Definition:

A diffuse form of hepatic steatosis.

Comments:

Reference:

HP:0006555

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute hepatic steatosis (HP:0006573)

Macrovesicular hepatic steatosis (HP:0001403)

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:0006555	HP:0006555	Diffuse hepatic steatosis	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	665	119	609751
HP:0006555	HP:0006555	Diffuse hepatic steatosis	0	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0006555	HP:0006555	Diffuse hepatic steatosis	0	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	1	792	4801	600890
HP:0006555	HP:0006555	Diffuse hepatic steatosis	0	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	1	367	4803	143450
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (5) :ACOX1 APOPT1 COA8 HADHA HADHB

Diseases (3) :264470 436271 746

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