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Bethlem myopathy 2
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description A form of Bethlem myopathy, a benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. BTHLM2 inheritance is autosomal dominant.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616471
Orphanet:536516
UMLS:C4225313
MONDO:0034022
High level summary of knowledge for a disease, including descriptions and datasource references.