Human Phenotype Ontology 
Grandparent Node:
expandAbnormal mitral valve morphology (HP:0001633)help
Parent Node:
expandMitral valve prolapse (HP:0001634)help
..Starting node
..expandMyxomatous mitral valve degeneration (HP:0004764)help
Term ID: 4764
Name: Myxomatous mitral valve degeneration
Synonym:
Definition: Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.
Comments:
Reference: HP:0004764
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004764HP:0004764Myxomatous mitral valve degeneration0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0004764HP:0004764Myxomatous mitral valve degeneration0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0004764HP:0004764Myxomatous mitral valve degeneration0TAB2 CL E G H2311817075OMIM:614980Congenital heart defects, multiple types, 2.11


Genes (3) :ELN MLXIPL TAB2

Diseases (2) :OMIM:194050 OMIM:614980
 

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