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 aortic arch morphology (HP:0012303)

Parent Node:
Interrupted aortic arch (HP:0011611)

..Starting node
..Interrupted aortic arch type A (HP:0011612)

Term ID:

11612

Name:

Interrupted aortic arch type A

Synonym:

Definition:

Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.

Comments:

Reference:

HP:0011612

Genes and Diseases:

Child Nodes:

Sister Nodes:

Interrupted aortic arch type B (HP:0011613)

Interrupted aortic arch type C (HP:0011614)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011612	HP:0011612	Interrupted aortic arch type A	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.