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 morphology (HP:0006704)

Parent Node:
Abnormal coronary artery course (HP:0011686)

..Starting node
..Coronary artery fistula (HP:0011641)

Term ID:

11641

Name:

Coronary artery fistula

Synonym:

Coronary fistula

Definition:

A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.

Comments:

Reference:

HP:0011641

Genes and Diseases:

Child Nodes:

........

Coronary-pulmonary artery fistula (HP:0025516)

........

Coronary cameral fistula (HP:0031560)

................... HP:0031561 Coronary cameral fistula to right ventricle

........

Coronary arteriovenous fistula (HP:0031563)

Sister Nodes:

Myocardial bridging (HP:0025490)

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:0011641	HP:0011641	Coronary artery fistula	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0011641	HP:0011641	Coronary artery fistula	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0011641	HP:0031563	Coronary arteriovenous fistula	1	CL E G H
HP:0011641	HP:0031560	Coronary cameral fistula	1	CL E G H
HP:0011641	HP:0025516	Coronary-pulmonary artery fistula	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0011641	HP:0031561	Coronary cameral fistula to right ventricle	2	CL E G H

Genes (2) :ANAPC7 PPFIBP1

Diseases (2) :OMIM:619699 OMIM:620024

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