Human Phenotype Ontology 
Grandparent Node:
expandAbnormal aortic valve cusp morphology (HP:0031567)help
Parent Node:
expandBicuspid aortic valve (HP:0001647)help
..Starting node
..expandSingle raphe bicuspid aortic valve (HP:0031118)help
Term ID: 31118
Name: Single raphe bicuspid aortic valve
Synonym:
Definition: A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.
Comments:
Reference: HP:0031118
Genes and Diseases:
 
       Child Nodes:
........expandBicuspid aortic valve with right-left cusp fusion (HP:0031119) help
........expandBicuspid aortic valve with right-noncoronary cusp fusion (HP:0031120) help
........expandBicuspid aortic valve with left-noncoronary cusp fusion (HP:0031121) help

 Sister Nodes: 
..expandPurely bicuspid aortic valve (HP:0031117) 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:0031118HP:0031118Single raphe bicuspid aortic valve0 CL E G H
HP:0031118HP:0031121Bicuspid aortic valve with left-noncoronary cusp fusion1 CL E G H
HP:0031118HP:0031120Bicuspid aortic valve with right-noncoronary cusp fusion1 CL E G H
HP:0031118HP:0031119Bicuspid aortic valve with right-left cusp fusion1 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.