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
..Right ventricular outlet tract obstruction (HP:0001705)

Term ID:

1705

Name:

Right ventricular outlet tract obstruction

Synonym:

Right ventricular outlet obstruction

Definition:

An obstruction to the forward flow of blood in the outflow tract of the right ventricle.

Comments:

Reference:

HP:0001705

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Cor pulmonale (HP:0001648)

Hypoplasia of right ventricle (HP:0004762)

Right ventricular dilatation (HP:0005133)

Right ventricular hypertrophy (HP:0001667)

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:0001705	HP:0001705	Right ventricular outlet tract obstruction	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0001705	HP:0001705	Right ventricular outlet tract obstruction	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0001705	HP:0001705	Right ventricular outlet tract obstruction	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98

Genes (3) :DVL1 ROR2 WNT5A

Diseases (2) :OMIM:180700 OMIM:268310

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