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 morphology (HP:0001679)

Parent Node:
Coarctation of aorta (HP:0001680)

..Starting node
..Long segment coarctation of the aorta (HP:0031054)

Term ID:

31054

Name:

Long segment coarctation of the aorta

Synonym:

Definition:

Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.

Comments:

Reference:

HP:0031054

Genes and Diseases:

Child Nodes:

Sister Nodes:

Coarctation in the transverse aortic arch (HP:0031053)

Coarctation of abdominal aorta (HP:0004974)

Coarctation of the descending aortic arch (HP:0012305)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031054	HP:0031054	Long segment coarctation of the aorta	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.