Search Ontology:
Human Disease

Leri-Weill dyschondrosteosis

Term ID
DOID:0060847
Synonyms
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. (4)
References
Ontology
Human Disease   ( DOID:0060847 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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