Summary Literature (0)

DOID:0111161 - Crouzon syndrome-acanthosis nigricans syndrome

Disease Ontology Definition:An autosomal dominant disease characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.

Synonyms: CAN, Crouzon-dermoskeletal syndrome, Crouzonodermoskeletal syndrome,

Echinobase Genes : fgfr3


OMIM:

OMIM:612247 - crouzon syndrome with acanthosis nigricans; can

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee