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 coronary artery morphology (HP:0006704)

Parent Node:
Abnormal coronary artery origin (HP:0011636)

..Starting node
..Single coronary artery origin (HP:0011640)

Term ID:

11640

Name:

Single coronary artery origin

Synonym:

Definition:

The presence of a single coronary artery ostium from which both coronary arteries arise.

Comments:

Reference:

HP:0011640

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent left main coronary artery (HP:0031639)

Anomalous coronary artery arising from the opposite sinus (HP:0025503)

Anomalous origin of coronary artery from the pulmonary artery (HP:0011637)

Anomalous origin of the circumflex artery from the right sinus of Valsalva (HP:0025505)

Coronary ostial atresia (HP:0031626)

Separate origin of the left anterior descending and left circumflex artery (HP:0031536)

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:0011640	HP:0011640	Single coronary artery origin	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011640	HP:0011640	Single coronary artery origin	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional	3
HP:0011640	HP:0011640	Single coronary artery origin	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional

Genes (3) :CIROP NKX2-6 PLXND1

Diseases (2) :OMIM:619702 ORPHA:3384

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