Version: 8.0.0
Date: Tue Jan 28 2025
Leri-Weill dyschondrosteosis
DOID:0060847
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
Parent Terms
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Sources of Associations

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