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:
Arteriovenous fistula (HP:0004947)

..Starting node
..Pulmonary arteriovenous fistulas (HP:0004952)

Term ID:

4952

Name:

Pulmonary arteriovenous fistulas

Synonym:

Definition:

A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.

Comments:

Reference:

HP:0004952

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Peripheral arteriovenous fistula (HP:0100784)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004952	HP:0004952	Pulmonary arteriovenous fistulas	0	CL E G H

Genes (0) :

Diseases (0) :

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