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DO Term : camptodactyly-tall stature-scoliosis-hearing loss syndrome [DOID:0111160] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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:
  • ORDO:85164,
  • UMLS_CUI:C1864852,
  • CATSHL syndrome,
  • 610474,
  • OMIM:610474,
  • SNOMEDCT_US_2023_03_01:720601000,
  • MESH:C537975
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Disease

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