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:
Abnormal coronary artery course (HP:0011686)

Parent Node:
Coronary artery fistula (HP:0011641)

..Starting node
..Coronary-pulmonary artery fistula (HP:0025516)

Term ID:

25516

Name:

Coronary-pulmonary artery fistula

Synonym:

Definition:

A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.

Comments:

Reference:

HP:0025516

Genes and Diseases:

Child Nodes:

Sister Nodes:

Coronary arteriovenous fistula (HP:0031563)

Coronary cameral fistula (HP:0031560)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025516	HP:0025516	Coronary-pulmonary artery fistula	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON

Genes (1) :ANAPC7

Diseases (1) :OMIM:619699

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