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Metadata
ID	DOID:0060847
Name	Leri-Weill dyschondrosteosis
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. https://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/, https://www.ncbi.nlm.nih.gov/pubmed/10713888, https://www.ncbi.nlm.nih.gov/pubmed/21712857, https://www.ncbi.nlm.nih.gov/pubmed/9590292
Xrefs	GARD:3224 MESH:C537119 NCI:C126560 OMIM:127300 ORDO:240 SNOMEDCT_US_2023_03_01:17818006 UMLS_CUI:C0265309
Subsets	DO_rare_slim NCIthesaurus
Parent Relationships	is_a osteochondrodysplasia