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ONTOLOGY REPORT - ANNOTATIONS


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
 narrow_synonym: DCO MADELUNG DEFORMITY;   DYSCHONDROSTEOSIS
 primary_id: MESH:C537119
 alt_id: OMIM:127300;   RDO:0002891
 xref: GARD:3224;   NCI:C126560;   ORDO:240
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:8554872
G Shox2 short stature homeobox 2 JBrowse link 2 164,118,175 164,126,783 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Pathological Conditions, Signs and Symptoms 7743
      Pathologic Processes 4927
        Growth Disorders 244
          Leri-Weill dyschondrosteosis 2
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      Skin and Connective Tissue Diseases 3920
        connective tissue disease 2572
          bone disease 2114
            bone development disease 892
              osteochondrodysplasia 402
                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.