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Disease Ontology Browser
cardiofaciocutaneous syndrome (DOID:0060233)
Alliance: disease page
Synonyms: cardio-facial-cutaneous syndrome; CFC syndrome
Alt IDs: OMIM:115150, OMIM:615278, OMIM:615279, OMIM:615280, ICD10CM:Q87.8, ORDO:1340
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; it is that has material basis in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory