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:
Arteriovenous malformation (HP:0100026)

Parent Node:
Abnormal venous morphology (HP:0002624)

Parent Node:
Arteriovenous fistula (HP:0004947)

..Starting node
..Arteriovenous fistulas of celiac and mesenteric vessels (HP:0002642)

Term ID:

2642

Name:

Arteriovenous fistulas of celiac and mesenteric vessels

Synonym:

Arteriovenous fistulas of coeliac and mesenteric vessels

Definition:

Comments:

Reference:

HP:0002642

Genes and Diseases:

Child Nodes:

Sister Nodes:

Peripheral arteriovenous fistula (HP:0100784)

Pulmonary arteriovenous fistulas (HP:0004952)

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:0002642	HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040282 - Frequent	749
HP:0002642	HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186

Genes (2) :COL3A1 ENG

Diseases (2) :ORPHA:286 OMIM:187300

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