DISEASES

Disease-gene associations mined from literature

Human genes for camptodactyly-tall stature-scoliosis-hearing loss syndrome

Camptodactyly-tall stature-scoliosis-hearing loss syndrome [DOID:0111160]

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:  camptodactyly-tall stature-scoliosis-hearing loss syndrome,  DOID:0111160,  camptodactylytall staturescoliosishearing loss syndrome,  camptodactyly-tall stature-scoliosis-hearing loss disease,  camptodactyly-tall stature-scoliosis-hearing loss disorder ...