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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fgfr3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012833 - Crouzon syndrome-acanthosis nigricans syndrome

MONDO:0012833 - Crouzon syndrome-acanthosis nigricans syndrome

Other Model Organisms: Alliance, 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)