Term:camptodactyly-tall stature-scoliosis-hearing loss syndrome
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Accession:DOID:0111160 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: CATSHL Syndrome;   CATSHLS;   Camptodactyly, tall stature, and hearing loss syndrome
 primary_id: MESH:C537975;   RDO:0003903
 alt_id: DOID:9005967;   OMIM:610474
 xref: ORDO:85164
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camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710

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Path 1
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  disease 14920
    syndrome 4714
      camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
Path 2
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  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Musculoskeletal Abnormalities 1196
            Congenital Limb Deformities 344
              Upper Extremity Deformities, Congenital 77
                Congenital Hand Deformities 63
                  camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.