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 morphology of the great vessels (HP:0030962)

Parent Node:
Congenital malformation of the great arteries (HP:0011603)

..Starting node
..Aortopulmonary window (HP:0011604)

Term ID:

11604

Name:

Aortopulmonary window

Synonym:

Definition:

A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt.

Comments:

Reference:

HP:0011604

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenitally corrected transposition of the great arteries (HP:0011540)

Conotruncal defect (HP:0001710)

Dilatation of the ductus arteriosus (HP:0030745)

Patent ductus arteriosus (HP:0001643)

Transposition of the great arteries (HP:0001669)

Truncus arteriosus (HP:0001660)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011604	HP:0011604	Aortopulmonary window	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025

Genes (1) :ALDH1A2

Diseases (1) :OMIM:620025

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