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autosomal recessive limb-girdle muscular dystrophy type 2R
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.
Uniprot Description A form of limb-girdle muscular dystrophy, a disease characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.
Mondo Term and Equivalent IDs
MONDO:0014129: autosomal recessive limb-girdle muscular dystrophy type 2R
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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 Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110286
OMIM:615325
Orphanet:363543
UMLS:C3809137
MONDO:0014129
High level summary of knowledge for a disease, including descriptions and datasource references.