OBO ID: DOID:0080977
Term Name: aortic valve disease 3 Search Ontology:
Synonyms:
Definition: A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24. https://pubmed.ncbi.nlm.nih.gov/30455415/
References:
Ontology: Human Disease   ( DOID:0080977 )
OTHER aortic valve disease 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ROBO4 Aortic valve disease 3 618496
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None