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:
Abnormal aortic arch morphology (HP:0012303)

Parent Node:
Coarctation of aorta (HP:0001680)

..Starting node
..Coarctation of the descending aortic arch (HP:0012305)

Term ID:

12305

Name:

Coarctation of the descending aortic arch

Synonym:

Definition:

Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.

Comments:

Reference:

HP:0012305

Genes and Diseases:

Child Nodes:

........

Preductal coarctation of the aorta (HP:0005151)

........

Juxtaductal coarctation of the aorta (HP:0011646)

........

Postductal coarctation of the aorta (HP:0011647)

Sister Nodes:

Coarctation in the transverse aortic arch (HP:0031053)

Coarctation of abdominal aorta (HP:0004974)

Long segment coarctation of the aorta (HP:0031054)

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:0012305	HP:0012305	Coarctation of the descending aortic arch	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0012305	HP:0012305	Coarctation of the descending aortic arch	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0012305	HP:0011647	Postductal coarctation of the aorta	1	CL E G H
HP:0012305	HP:0011646	Juxtaductal coarctation of the aorta	1	CL E G H
HP:0012305	HP:0005151	Preductal coarctation of the aorta	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	.	270

Genes (2) :ALG3 GLI3

Diseases (2) :ORPHA:79321 OMIM:146510

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