Human Phenotype Ontology 
Grandparent Node:
expandAbnormal aortic valve cusp morphology (HP:0031567)help
Parent Node:
expandBicuspid aortic valve (HP:0001647)help
..Starting node
..expandPurely bicuspid aortic valve (HP:0031117)help
Term ID: 31117
Name: Purely bicuspid aortic valve
Synonym:
Definition: A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.
Comments:
Reference: HP:0031117
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandSingle raphe bicuspid aortic valve (HP:0031118) help
..expandTwo-raphe bicuspid aortic valve (HP:0031122) 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:0031117HP:0031117Purely 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.