About   Help   FAQ
Disease Ontology Browser
Leri-Weill dyschondrosteosis (DOID:0060847)
Alt IDs: OMIM:127300, ICD10CM:Q77.8, MESH:C537119, 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. It 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/18/2017
MGI 6.08
The Jackson Laboratory