Human Phenotype Ontology 
Grandparent Node:
expandAbnormal atrioventricular valve morphology (HP:0006705)help
Parent Node:
expandAbnormal mitral valve morphology (HP:0001633)help
..Starting node
..expandAbnormal mitral valve annulus morphology (HP:0031478)help
Term ID: 31478
Name: Abnormal mitral valve annulus morphology
Synonym:
Definition: Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.
Comments:
Reference: HP:0031478
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal mitral valve leaflet morphology (HP:0031480) help
..expandAbnormal morphology of the chordae tendinae of the mitral valve (HP:0025523) help
..expandDilatation of the mitral annulus (HP:0031479) help
..expandDouble orifice mitral valve (HP:0011568) help
..expandMitral atresia (HP:0011560) help
..expandMitral valve arcade (HP:0011564) help
..expandMitral valve calcification (HP:0004382) help
..expandMitral valve prolapse (HP:0001634) help
..expandSupramitral ring (HP:0011572) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031478HP:0031478Abnormal mitral valve annulus morphology0 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.