Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/D017240 http://purl.bioontology.org/ontology/MESH/D017240
Preferred Name	Mitochondrial Myopathies
Definitions	A group of muscle diseases associated with abnormal mitochondria function.
Synonyms	Myopathy, Megaconial Lufts Disease Megaconial Myopathies Disease, Luft's Myopathies, Pleoconial Luft's Disease Luft Disease Myopathies, Mitochondrial Disease, Luft Megaconial Myopathy Mitochondrial Myopathy Pleoconial Myopathies Pleoconial Myopathy Myopathy, Pleoconial See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	A group of muscle diseases associated with abnormal mitochondria function.
altLabel	Myopathy, Megaconial Lufts Disease Megaconial Myopathies Disease, Luft's Myopathies, Pleoconial Luft's Disease Luft Disease Myopathies, Mitochondrial Disease, Luft Megaconial Myopathy Mitochondrial Myopathy Pleoconial Myopathies Pleoconial Myopathy Myopathy, Pleoconial See more See less
prefLabel	Mitochondrial Myopathies
TH	OMIM (2013) NLM (2002) NLM (2000) NLM (1993)
notation	D017240
DX	19930101
Machine permutation	1993
MN	C05.651.460 C18.452.660.560 C10.668.491.500
MMR	20120703
Mapped from	http://purl.bioontology.org/ontology/MESH/C540770 http://purl.bioontology.org/ontology/MESH/C567608 http://purl.bioontology.org/ontology/MESH/C567624 http://purl.bioontology.org/ontology/MESH/C567769 http://purl.bioontology.org/ontology/MESH/C537476 http://purl.bioontology.org/ontology/MESH/C566945 http://purl.bioontology.org/ontology/MESH/C537396 http://purl.bioontology.org/ontology/MESH/C564026 http://purl.bioontology.org/ontology/MESH/C564017 http://purl.bioontology.org/ontology/MESH/C566467 http://purl.bioontology.org/ontology/MESH/C565376 See more See less
AQL	BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
HN	1993
subClassOf	http://purl.bioontology.org/ontology/MESH/D009135 http://purl.bioontology.org/ontology/MESH/D028361
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
DC	1
MDA	19920522
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D008931
type	http://www.w3.org/2002/07/owl#Class
tui	T047
cui	C0162670 C0949496 C0162669 C0162668
AN	general or unspecified; prefer specifics
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401 See more See less
TERMUI	T812058 T051399 T369288 T440506 T440505 T051398 T051397 See more See less

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