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Term:Leri-Weill dyschondrosteosis
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Accession:DOID:0060847 term browser browse the term
Definition:An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. (DO)
Synonyms:exact_synonym: LWD;   Leri-Weil Syndrome;   Léri-Weill Dyschondrosteosis
 primary_id: MESH:C537119
 alt_id: OMIM:127300;   RDO:0002891
 xref: GARD:3224;   NCI:C126560;   ORDO:240
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Leri-Weill dyschondrosteosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC691272 similar to reproductive homeobox on X chromosome, 11 JBrowse link X 124,045,727 124,052,708 RGD:7240710
G Shox2 short stature homeobox 2 JBrowse link 2 164,118,175 164,126,783 RGD:13592920

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Path 1
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  disease 15602
    Pathological Conditions, Signs and Symptoms 8087
      Pathologic Processes 5160
        Growth Disorders 295
          Leri-Weill dyschondrosteosis 2
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      Skin and Connective Tissue Diseases 4236
        connective tissue disease 2796
          bone disease 2247
            bone development disease 1008
              osteochondrodysplasia 414
                Leri-Weill dyschondrosteosis 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.