FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term distal myopathy with rimmed vacuoles ID (Ontology) DOID:0081363 (Human Disease)
Definition A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35.
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 distal myopathy with rimmed vacuoles       1
 for disease ribbon | distal myopathy with rimmed vacuoles       1
 model of | distal myopathy with rimmed vacuoles       1
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autosomal genetic disease
 |__autosomal dominant disease__
muscular dystrophy              |
 |__distal myopathy_____________|
                                distal myopathy with rimmed vacuoles  1 rec.
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Is a autosomal dominant disease
distal myopathy
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MIM:617158
ORDO:602