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DO Term : distal myopathy with rimmed vacuoles [DOID:0081363] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ORDO:602,
  • OMIM:617158,
  • 617158
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents