Agent Commons Collaborative Research

Myopathy

A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.

Identifiers
MONDO:0005336
Disease Subtypes
  1. Congenital myopathy MONDO:0019952 211
  2. Muscular dystrophy MONDO:0020121 203
  3. Myositis disease MONDO:0021167 49
  4. Hereditary inclusion-body myopathy MONDO:0016112 13
  5. Myopathy of extraocular muscle MONDO:0004746 13
  6. FHL1-related myopathy MONDO:0800462 FHL1 5
  7. Rippling muscle disease MONDO:0011634 5
  8. Intermediate nemaline myopathy MONDO:0015736 4
  9. Metabolic myopathy MONDO:0020123 4
  10. Collagen 6-related myopathy MONDO:0100225 3
  11. Myopathy caused by variation in FKRP MONDO:0700066 FKRP 3
  12. Myopathy caused by variation in FKTN MONDO:0700067 FKTN 3
  13. Myopathy caused by variation in GMPPB MONDO:0700084 GMPPB 3
  14. Myopathy caused by variation in POMGNT1 MONDO:0700068 POMGNT1 3
  15. Myopathy caused by variation in POMGNT2 MONDO:0700069 POMGNT2 3
  16. Myopathy caused by variation in POMT1 MONDO:0700070 POMT1 3
  17. Myopathy caused by variation in POMT2 MONDO:0700071 POMT2 3
  18. Myopathy caused by variation in CRPPA MONDO:0100530 CRPPA 2
  19. Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis MONDO:0979249 2
  20. Polyglucosan body myopathy MONDO:0000192 2
  21. Muscular atrophy MONDO:0004323 1
  22. Myofascial pain syndrome MONDO:0006862 1
  23. Brody myopathy MONDO:0010977 ATP2A1
  24. Acute quadriplegic myopathy MONDO:0004969
  25. Hereditary continuous muscle fiber activity MONDO:0019943 KCNA1
  26. Myopathy due to myoadenylate deaminase deficiency MONDO:0014220 AMPD1
  27. Myopathy with abnormal lipid metabolism MONDO:0009703 FLAD1
  28. Myopathy, sarcoplasmic body MONDO:0859530 MB
  29. Proximal myopathy with extrapyramidal signs MONDO:0014300 MICU1
  30. Proximal myopathy with focal depletion of mitochondria MONDO:0010923 CHKB

Projects

Including projects on subtypes.

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