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 ventricular septum morphology (HP:0010438)

Parent Node:
Ventricular septal defect (HP:0001629)

..Starting node
..Inlet ventricular septal defect (HP:0011622)

Term ID:

11622

Name:

Inlet ventricular septal defect

Synonym:

Atrioventricular canal type ventricular septal defect; Type 3 ventricular septal defect

Definition:

A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.

Comments:

Reference:

HP:0011622

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gerbode ventricular septal defect (HP:0011621)

Muscular ventricular septal defect (HP:0011623)

Non-restrictive ventricular septal defect (HP:0011684)

Perimembranous ventricular septal defect (HP:0011682)

Restrictive ventricular septal defect (HP:0011683)

Subarterial ventricular septal defect (HP:0011681)

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:0011622	HP:0011622	Inlet ventricular septal defect	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.	68
HP:0011622	HP:0011622	Inlet ventricular septal defect	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS

Genes (2) :GJA1 TTC26

Diseases (2) :OMIM:600309 OMIM:619534

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