Term Name: | camptodactyly-tall stature-scoliosis-hearing loss syndrome |
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Synonyms: | CATSHL syndrome |
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. |
Ontology: | Human Disease [DOID:0111160] ( DOID:0111160 ) |