Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Decreased liver function (HP:0001410)

Parent Node:
Hepatic failure (HP:0001399)

..Starting node
..Fatal liver failure in infancy (HP:0006583)

Term ID:

6583

Name:

Fatal liver failure in infancy

Synonym:

Fatal liver failure in infancy

Definition:

Comments:

Reference:

HP:0006583

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute hepatic failure (HP:0006554)

Chronic hepatic failure (HP:0100626)

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:0006583	HP:0006583	Fatal liver failure in infancy	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040283 - Occasional	67
HP:0006583	HP:0006583	Fatal liver failure in infancy	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0006583	HP:0006583	Fatal liver failure in infancy	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040283 - Occasional

Genes (3) :COG4 NPC1 TRNT

Diseases (3) :ORPHA:263501 OMIM:257220 ORPHA:254857

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.