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Summary Literature (0)
DOID:0111160 - camptodactyly-tall stature-scoliosis-hearing loss syndrome

Disease Ontology Definition:A syndrome 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,

Xenbase Genes : fgfr3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012504 - camptodactyly-tall stature-scoliosis-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), syndrome (is_a)