Human Phenotype Ontology 
Grandparent Node:
expandBicuspid aortic valve (HP:0001647)help
Parent Node:
expandSingle raphe bicuspid aortic valve (HP:0031118)help
..Starting node
..expandBicuspid aortic valve with right-noncoronary cusp fusion (HP:0031120)help
Term ID: 31120
Name: Bicuspid aortic valve with right-noncoronary cusp fusion
Synonym:
Definition: A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.
Comments:
Reference: HP:0031120
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBicuspid aortic valve with left-noncoronary cusp fusion (HP:0031121) help
..expandBicuspid aortic valve with right-left cusp fusion (HP:0031119) 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:0031120HP:0031120Bicuspid aortic valve with right-noncoronary cusp fusion0 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.