Human Phenotype Ontology 
Grandparent Node:
expandAbnormal aortic valve morphology (HP:0001646)help
Parent Node:
expandAbnormal aortic valve cusp morphology (HP:0031567)help
..Starting node
..expandAbsent aortic valve cusps (HP:0031569)help
Term ID: 31569
Name: Absent aortic valve cusps
Synonym: Absent aortic valve
Definition: A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.
Comments:
Reference: HP:0031569
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBicuspid aortic valve (HP:0001647) help
..expandQuadricuspid aortic valve (HP:0031655) help
..expandThickened aortic valve cusp (HP:0031568) help
..expandUnicuspid aortic valve (HP:0012561) 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:0031569HP:0031569Absent aortic valve cusps0 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.