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
..Subarterial ventricular septal defect (HP:0011681)

Term ID:

11681

Name:

Subarterial ventricular septal defect

Synonym:

Conal ventricular septal defect; Doubly committed ventricular septal defect; Infundibular ventricular septal defect; Supracristal ventricular septal defect; Type 1 ventricular septal defect

Definition:

A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.

Comments:

Reference:

HP:0011681

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gerbode ventricular septal defect (HP:0011621)

Inlet ventricular septal defect (HP:0011622)

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)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011681	HP:0011681	Subarterial ventricular septal defect	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	15

Genes (1) :IDH1

Diseases (1) :ORPHA:99646

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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