Human Phenotype Ontology 
Grandparent Node:
expandAbnormal aortic valve cusp morphology (HP:0031567)help
Parent Node:
expandBicuspid aortic valve (HP:0001647)help
..Starting node
..expandTwo-raphe bicuspid aortic valve (HP:0031122)help
Term ID: 31122
Name: Two-raphe bicuspid aortic valve
Synonym:
Definition: A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.
Comments:
Reference: HP:0031122
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPurely bicuspid aortic valve (HP:0031117) help
..expandSingle raphe bicuspid aortic valve (HP:0031118) 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:0031122HP:0031122Two-raphe bicuspid aortic valve0 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.