Crouzon syndrome-acanthosis nigricans syndrome

Summary

DOID:0111161 - Crouzon syndrome-acanthosis nigricans syndrome

Disease Ontology Definition:A syndrome 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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fgfr3

OMIM:

MIM:612247 - crouzon syndrome with acanthosis nigricans; can

MIM: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

Parent(s): autosomal dominant disease (is_a), bone disease (is_a), syndrome (is_a)