Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 cardiac ventricle morphology (HP:0001713)

Parent Node:
Abnormal left ventricle morphology (HP:0001711)

..Starting node
..Double outlet left ventricle (HP:0011581)

Term ID:

11581

Name:

Double outlet left ventricle

Synonym:

Definition:

A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle.

Comments:

Reference:

HP:0011581

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal left ventricular outflow tract morphology (HP:0011103)

Left ventricular hypertrophy (HP:0001712)

Morphological abnormality of the papillary muscles (HP:0025445)

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:0011581	HP:0011581	Double outlet left ventricle	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0011581	HP:0011581	Double outlet left ventricle	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional	37

Genes (1) :GATA6

Diseases (2) :OMIM:600001 ORPHA:2255

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