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 cardiac ventricle morphology (HP:0001713)

Parent Node:
Abnormal right ventricle morphology (HP:0001707)

..Starting node
..Hypoplasia of right ventricle (HP:0004762)

Term ID:

4762

Name:

Hypoplasia of right ventricle

Synonym:

Heart right ventricle hypoplasia; Small right heart chamber; Underdeveloped right heart chamber

Definition:

Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.

Comments:

Reference:

HP:0004762

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anomalous muscle bundle of the right ventricle (HP:0030740)

Cor pulmonale (HP:0001648)

Right ventricular dilatation (HP:0005133)

Right ventricular hypertrophy (HP:0001667)

Right ventricular outlet tract obstruction (HP:0001705)

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:0004762	HP:0004762	Hypoplasia of right ventricle	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional	37
HP:0004762	HP:0004762	Hypoplasia of right ventricle	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal		3
HP:0004762	HP:0004762	Hypoplasia of right ventricle	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental		4

Genes (3) :GATA6 MMP21 PLD1

Diseases (3) :ORPHA:2255 OMIM:616749 OMIM:212093

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