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General Information
ZIRC
OBO ID: DOID:0060233
Term Name: cardiofaciocutaneous syndrome Search Ontology:
Synonyms:
  • cardio-facial-cutaneous syndrome
  • CFC syndrome
Definition: A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. (3)
References:
Ontology: Human Disease   (DOID:0060233)
OTHER cardiofaciocutaneous syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BRAF Cardiofaciocutaneous syndrome 115150
KRAS Cardiofaciocutaneous syndrome 2 615278
MAP2K1 Cardiofaciocutaneous syndrome 3 615279
MAP2K2 Cardiofaciocutaneous syndrome 4 615280
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS (3)