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)

Grandparent Node:
Coarctation of aorta (HP:0001680)

Parent Node:
Coarctation of the descending aortic arch (HP:0012305)

..Starting node
..Preductal coarctation of the aorta (HP:0005151)

Term ID:

5151

Name:

Preductal coarctation of the aorta

Synonym:

Proximal aortic coarctation

Definition:

Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.

Comments:

Reference:

HP:0005151

Genes and Diseases:

Child Nodes:

Sister Nodes:

Juxtaductal coarctation of the aorta (HP:0011646)

Postductal coarctation of the aorta (HP:0011647)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005151	HP:0005151	Preductal coarctation of the aorta	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	.	270

Genes (1) :GLI3

Diseases (1) :OMIM:146510

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