JSON

myopathy

^ http://www.ebi.ac.uk/efo/EFO_0004145


a disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. [ https://en.wikipedia.org/wiki/Myopathy ]

Synonyms: myopathy

Term info

database cross reference
  • ICD10:M60-M63 (DOID:423)
  • ICD9:359.9 (i2s)
  • ICD10:M62.9 (DOID:423)
  • DOID:423 (MONDO:equivalentTo)
  • UMLS:C0026848 (NCIT:C101216)
  • OMIM:300695
  • MONDO:0005336
  • NCIT:C101216 (MONDO:kboom-pr-1.00/0.87/15.87)
  • NCIt:C101216
  • ICD10:G72.9 (DOID:423)
  • SCTID:129565002 (MONDO:kboom-pr-1.00/0.74/6.32)
  • OMIM:181430
  • ICD9:359.8 (i2s)
  • ICD9:728.3 (i2s)
closeMatch

http://identifiers.org/snomedct/155099000, http://identifiers.org/snomedct/52794005, http://identifiers.org/snomedct/267711006, http://identifiers.org/snomedct/203845002, http://identifiers.org/snomedct/267714003, http://identifiers.org/snomedct/155094005, http://identifiers.org/snomedct/268103006, http://identifiers.org/snomedct/203833006

comment

Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition

exactMatch

http://purl.obolibrary.org/obo/NCIT_C101216, http://identifiers.org/snomedct/129565002, http://linkedlifedata.com/resource/umls/id/C0026848, http://purl.obolibrary.org/obo/DOID_423

gwas trait

true

id

EFO:0004145