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Disease Ontology Browser
Leri-Weill dyschondrosteosis (DOID:0060847)
Alliance: disease page
Alt IDs: OMIM:127300, MESH:C537119, NCI:C126560, ORDO:240, UMLS_CUI:C0265309
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/05/2024
MGI 6.24 		The Jackson Laboratory