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:
Abnormal liver morphology (HP:0410042)

Grandparent Node:
Abnormality of the vasculature (HP:0002597)

Parent Node:
Abnormality of the hepatic vasculature (HP:0006707)

..Starting node
..Hepatic vascular malformations (HP:0006576)

Term ID:

6576

Name:

Hepatic vascular malformations

Synonym:

Liver vascular malformations

Definition:

Comments:

Reference:

HP:0006576

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anomalous splenoportal venous system (HP:0005201)

Hepatic arteriovenous malformation (HP:0006574)

Intrahepatic portal vein sclerosis (HP:0031015)

Portal hypertension (HP:0001409)

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:0006576	HP:0006576	Hepatic vascular malformations	0	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1	.	92

Genes (1) :KRIT1

Diseases (1) :OMIM:116860

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