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Echinobase
Summary Literature (0)
DOID:0060847 - Leri-Weill dyschondrosteosis

Disease Ontology 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.

Synonyms:

Echinobase Genes :


OMIM:
MIM:127300 - leri-weill dyschondrosteosis; lwd

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): osteochondrodysplasia (is_a)