OBO ID: DOID:0060847
Term Name: Leri-Weill dyschondrosteosis Search Ontology:
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 Leri-Weill dyschondrosteosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SHOX Leri-Weill dyschondrosteosis 127300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (2)
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