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 morphology of the great vessels (HP:0030962)

Parent Node:
Abnormal spatial orientation of the cardiac segments (HP:0011534)

Parent Node:
Congenital malformation of the great arteries (HP:0011603)

..Starting node
..Congenitally corrected transposition of the great arteries (HP:0011540)

Term ID:

11540

Name:

Congenitally corrected transposition of the great arteries

Synonym:

L-transposition; Ventricular inversion

Definition:

The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta.

Comments:

Reference:

HP:0011540

Genes and Diseases:

Child Nodes:

........

Congenitally corrected transposition of the great arteries with ventricular septal defect (HP:0011605)

Sister Nodes:

Aortopulmonary window (HP:0011604)

Conotruncal defect (HP:0001710)

Dilatation of the ductus arteriosus (HP:0030745)

Patent ductus arteriosus (HP:0001643)

Transposition of the great arteries (HP:0001669)

Truncus arteriosus (HP:0001660)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011540	HP:0011540	Congenitally corrected transposition of the great arteries	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0011540	HP:0011540	Congenitally corrected transposition of the great arteries	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40	18
HP:0011540	HP:0011540	Congenitally corrected transposition of the great arteries	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	3
HP:0011540	HP:0011605	Congenitally corrected transposition of the great arteries with ventricular septal defect	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	3

Genes (3) :CIROP DNAH9 PKD1L1

Diseases (3) :OMIM:619702 OMIM:618300 OMIM:617205

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

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