ZFIN Human Disease: cardiofaciocutaneous syndrome 3

OBO ID: DOID:0111462

OBO ID: DOID:0111462

Term Name:	cardiofaciocutaneous syndrome 3	Search Ontology:
Synonyms:	CFC3
Definition:	A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31. https://www.ncbi.nlm.nih.gov/pubmed/16439621
References:	OMIM:615279
Ontology:	Human Disease ( DOID:0111462 )

Relationships

is a type of:	autosomal dominant disease cardiofaciocutaneous syndrome autosomal dominant disease cardiofaciocutaneous syndrome Show first 5 Terms

OTHER cardiofaciocutaneous syndrome 3 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MAP2K1	map2k1	Cardiofaciocutaneous syndrome 3	615279

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None