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:
Abnormality of digestive system physiology (HP:0025032)

Parent Node:
Abnormality of hepatobiliary system physiology (HP:0025155)

..Starting node
..Reye syndrome-like episodes (HP:0006582)

Term ID:

6582

Name:

Reye syndrome-like episodes

Synonym:

Definition:

Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.

Comments:

Reference:

HP:0006582

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased liver function (HP:0001410)

Decreased mitochondrial complex III activity in liver tissue (HP:0006558)

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:0006582	HP:0006582	Reye syndrome-like episodes	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	264	7224	137960
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (1) :MPV17

Diseases (1) :256810

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