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distal myopathy with posterior leg and anterior hand involvement
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.
Uniprot Description A slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non-specific changes with no evidence of rods, necrosis, or inflammation.
Mondo Term and Equivalent IDs
MONDO:0013550: distal myopathy with posterior leg and anterior hand involvement
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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.
OMIM:614065
Orphanet:63273
SCTID:733489002
UMLS:C3279722
UMLS:C4518807
MONDO:0013550
High level summary of knowledge for a disease, including descriptions and datasource references.