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Human Disease

cardiofaciocutaneous syndrome

Term ID
DOID:0060233
Synonyms
  • cardio-facial-cutaneous syndrome
  • CFC syndrome
Definition
A RASopathy 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 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models