camptodactyly-tall stature-scoliosis-hearing loss syndrome Disease Ontology Browser

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Disease Ontology Browser

camptodactyly-tall stature-scoliosis-hearing loss syndrome (DOID:0111160)
Alliance: disease page
Synonyms: CATSHL syndrome
Alt IDs: OMIM:610474, MESH:C537975, ORDO:85164, UMLS_CUI:C1864852
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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