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:
Ventricular septal defect (HP:0001629)

Parent Node:
Muscular ventricular septal defect (HP:0011623)

..Starting node
..Multiple muscular ventricular septal defects (HP:0011625)

Term ID:

11625

Name:

Multiple muscular ventricular septal defects

Synonym:

Swiss cheese ventricular septal defect

Definition:

A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.

Comments:

Reference:

HP:0011625

Genes and Diseases:

Child Nodes:

Sister Nodes:

Apical muscular ventricular septal defect (HP:0011624)

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:0011625	HP:0011625	Multiple muscular ventricular septal defects	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011625	HP:0011625	Multiple muscular ventricular septal defects	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional	35

Genes (2) :DPH5 MYCN

Diseases (2) :OMIM:620070 ORPHA:391641

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