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 heart valve morphology (HP:0001654)

Parent Node:
Abnormal atrioventricular valve morphology (HP:0006705)

..Starting node
..Imperforate atrioventricular valve (HP:0011574)

Term ID:

11574

Name:

Imperforate atrioventricular valve

Synonym:

Unopened atrioventricular valve

Definition:

An atrioventricular valve that has failed to open (atretic).

Comments:

Reference:

HP:0011574

Genes and Diseases:

Child Nodes:

........

Imperforate tricuspid valve (HP:0011575)

Sister Nodes:

Abnormal mitral valve morphology (HP:0001633)

Abnormal tricuspid valve morphology (HP:0001702)

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:0011574	HP:0011574	Imperforate atrioventricular valve	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve		1269
HP:0011574	HP:0011575	Imperforate tricuspid valve	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040281 - Very frequent	1269

Genes (1) :MYH7

Diseases (1) :ORPHA:1880

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