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 atrioventricular valve morphology (HP:0006705)

Parent Node:
Abnormal mitral valve morphology (HP:0001633)

..Starting node
..Dilatation of the mitral annulus (HP:0031479)

Term ID:

31479

Name:

Dilatation of the mitral annulus

Synonym:

Definition:

An increase in the diameter of the ring (annulus) of the mitral valve.

Comments:

Reference:

HP:0031479

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal mitral valve annulus morphology (HP:0031478)

Abnormal mitral valve leaflet morphology (HP:0031480)

Abnormal morphology of the chordae tendinae of the mitral valve (HP:0025523)

Double orifice mitral valve (HP:0011568)

Mitral atresia (HP:0011560)

Mitral valve arcade (HP:0011564)

Mitral valve calcification (HP:0004382)

Mitral valve prolapse (HP:0001634)

Supramitral ring (HP:0011572)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031479	HP:0031479	Dilatation of the mitral annulus	0	CL E G H

Genes (0) :

Diseases (0) :

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