ZFIN Human Disease: aortic valve disease 2

OBO ID: DOID:0080334

Term Name:	aortic valve disease 2		Search Ontology:
Synonyms:
Definition:	A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22. https://www.ncbi.nlm.nih.gov/pubmed/22275001
References:	OMIM:614823
Ontology:	Human Disease ( DOID:0080334 )

Relationships

is a type of:	autosomal dominant disease bicuspid aortic valve disease autosomal dominant disease bicuspid aortic valve disease Show first 5 Terms

OTHER aortic valve disease 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SMAD6	smad6a smad6b	Aortic valve disease 2	614823

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None