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:
Congenital malformation of the right heart (HP:0011723)

Grandparent Node:
Conotruncal defect (HP:0001710)

Parent Node:
Double outlet right ventricle (HP:0001719)

..Starting node
..Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis (HP:0011658)

Term ID:

11658

Name:

Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis

Synonym:

DORV with subpulmonary VSD without pulmonary stenosis; Taussig-Bing anomaly

Definition:

A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.

Comments:

Reference:

HP:0011658

Genes and Diseases:

Child Nodes:

Sister Nodes:

Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (HP:0011651)

Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis (HP:0011652)

Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis (HP:0011653)

Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis (HP:0011654)

Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis (HP:0011655)

Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis (HP:0011656)

Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis (HP:0011657)

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:0011658	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0011658	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0011658	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0011658	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3

Genes (4) :HLA-B HLA-DRB1 P4HA2 PTPN22

Diseases (1) :ORPHA:397

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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