Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Mitochondrial Myopathies
Synonyms	Myopathy, Megaconial Myopathy, Pleoconial
Definitions	A group of muscle diseases associated with abnormal mitochondria function.
ID	http://purl.bioontology.org/ontology/MESH/D017240
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
AN	general or unspecified; prefer specifics
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
cui	C0162670 C0949496 C0162669 C0162668
DC	1
definition	A group of muscle diseases associated with abnormal mitochondria function.
DX	19930101
HN	1993
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
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D008931
Machine permutation	1993
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
MDA	19920522
MMR	20120703
MN	C05.651.460 C18.452.660.560 C10.668.491.500
notation	D017240
prefLabel	Mitochondrial Myopathies
TERMUI	T812058 T051399 T369288 T440506 T440505 T051398 T051397
TH	OMIM (2013) NLM (2002) NLM (2000) NLM (1993)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D009135 http://purl.bioontology.org/ontology/MESH/D028361

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MEDDRA/10027710	MEDDRA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D017240	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/DA-51540	SNMI	CUI
http://purl.bioontology.org/ontology/SNMI/DA-51540	SNMI	CUI
http://purl.bioontology.org/ontology/CSP/5000-0048	CRISP	CUI
http://purl.bioontology.org/ontology/MDRFRE/10027710	MDRFRE	CUI
http://purl.bioontology.org/ontology/OMIM/590095	OMIM	CUI
http://purl.bioontology.org/ontology/MDRGER/10027710	MDRGER	CUI
http://purl.bioontology.org/ontology/SNMI/DA-51600	SNMI	CUI
http://purl.bioontology.org/ontology/OMIM/590000	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/16851005	SCTSPA	CUI
http://purl.bioontology.org/ontology/RCD/X709I	RCD	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU005171	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/16851005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003559	NDFRT	CUI
http://purl.bioontology.org/ontology/OMIM/590065	OMIM	CUI
http://purl.bioontology.org/ontology/MSHFRE/D017240	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU071415	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/590055	OMIM	CUI
http://purl.bioontology.org/ontology/MSHFRE/D017240	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D017240	MSHFRE	CUI
http://www.phoc.org.cn/pmo/class/PMO_00038584	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.660.560	RH-MESH	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#17938	OCHV	LOOM
http://purl.jp/bio/4/id/200906050760851055	IOBC	LOOM
http://purl.obolibrary.org/obo/OMIT_0017625	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.651.460	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.491.500	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D017240	RH-MESH	LOOM