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OBO ID: DOID:0080333
Term Name: aortic valve disease 1 Search Ontology:
Synonyms:
Definition: A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/23388002
References:
Ontology: Human Disease   (DOID:0080333)
OTHER aortic valve disease 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NOTCH1 Aortic valve disease 1 109730
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None