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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC691272 similar to reproductive homeobox on X chromosome, 11 ISO ClinVar Annotator: match by term: Leri Weill dyschondrosteosis OMIM
ClinVar
PMID:9590292 PMID:9590293 PMID:11030412 PMID:11403039 PMID:11889214 PMID:12116253 PMID:12116254 PMID:15356038 PMID:17935511 PMID:21712857 PMID:22791839 PMID:24186869 NCBI chr  X:124,045,727...124,052,708
Ensembl chr  X:124,045,737...124,052,632
JBrowse link
G Shox2 short stature homeobox 2 ISS OMIM:127300 MouseDO NCBI chr 2:164,118,175...164,126,783
Ensembl chr 2:164,118,191...164,126,783
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Pathological Conditions, Signs and Symptoms 9879
      Pathologic Processes 6532
        Growth Disorders 765
          Leri-Weill dyschondrosteosis 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Skin and Connective Tissue Diseases 4984
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              osteochondrodysplasia 447
                Leri-Weill dyschondrosteosis 2
paths to the root