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Disease Ontology Browser
cardiofaciocutaneous syndrome (DOID:0060233)
Alliance: disease page
Synonyms: cardio-facial-cutaneous syndrome; CFC syndrome
Alt IDs: ICD10CM:Q87.8, MESH:C535579, OMIM:PS115150, ORDO:1340
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.

Disease References using Mouse Models (5)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory