DOID:0111160 - camptodactyly-tall stature-scoliosis-hearing loss syndrome
Disease Ontology Definition:An autosomal genetic disease characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.
Synonyms: CATSHL syndrome,
Echinobase Genes : fgfr3
|OMIM:610474 - camptodactyly, tall stature, and hearing loss syndrome|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal genetic disease (is_a)