Medical Subject Headings

Last uploaded: November 5, 2019

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Preferred Name	Mitochondrial Myopathies
Synonyms	Megaconial Myopathy
Definitions	A group of muscle diseases associated with abnormal mitochondria function.
ID	http://purl.bioontology.org/ontology/MESH/D017240
altLabel	Megaconial Myopathy Luft Disease Megaconial Myopathies Lufts Disease Disease, Luft's Myopathy, Megaconial Disease, Luft Pleoconial Myopathy Pleoconial Myopathies Myopathy, Pleoconial Myopathies, Mitochondrial Myopathies, Pleoconial Mitochondrial Myopathy Luft's Disease
AN	GEN or unspecified; prefer specifics; NARP syndrome (neuropathy, ataxia and retinitis pigmentosa) = MITOCHONDRIAL MYOPATHIES + ATAXIA + RETINITIS PIGMENTOSA + SYNDROME
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 C0162668 C0162669
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/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D008931
Inverse of SIB	http://purl.bioontology.org/ontology/MESH/D018908 http://purl.bioontology.org/ontology/MESH/D029242 http://purl.bioontology.org/ontology/MESH/D059352 http://purl.bioontology.org/ontology/MESH/D015324 http://purl.bioontology.org/ontology/MESH/D007625 http://purl.bioontology.org/ontology/MESH/D020386 http://purl.bioontology.org/ontology/MESH/D003286 http://purl.bioontology.org/ontology/MESH/D003161 http://purl.bioontology.org/ontology/MESH/D016603 http://purl.bioontology.org/ontology/MESH/D011111 http://purl.bioontology.org/ontology/MESH/D020967 http://purl.bioontology.org/ontology/MESH/D017271 http://purl.bioontology.org/ontology/MESH/D054069 http://purl.bioontology.org/ontology/MESH/D029241 http://purl.bioontology.org/ontology/MESH/D010245 http://purl.bioontology.org/ontology/MESH/D005356 http://purl.bioontology.org/ontology/MESH/D020165 http://purl.bioontology.org/ontology/MESH/D009128 http://purl.bioontology.org/ontology/MESH/D009209 http://purl.bioontology.org/ontology/MESH/D007888 http://purl.bioontology.org/ontology/MESH/D012206 http://purl.bioontology.org/ontology/MESH/D030401 http://purl.bioontology.org/ontology/MESH/D058923 http://purl.bioontology.org/ontology/MESH/D052256 http://purl.bioontology.org/ontology/MESH/D015325 http://purl.bioontology.org/ontology/MESH/D063806 http://purl.bioontology.org/ontology/MESH/D020966 http://purl.bioontology.org/ontology/MESH/D009220 http://purl.bioontology.org/ontology/MESH/D015673 http://purl.bioontology.org/ontology/MESH/D009120 http://purl.bioontology.org/ontology/MESH/D001176 http://purl.bioontology.org/ontology/MESH/D020914 http://purl.bioontology.org/ontology/MESH/D009127 http://purl.bioontology.org/ontology/MESH/D019042 http://purl.bioontology.org/ontology/MESH/D005621
Machine permutation	1993
Mapped from	http://purl.bioontology.org/ontology/MESH/C537396 http://purl.bioontology.org/ontology/MESH/C564017 http://purl.bioontology.org/ontology/MESH/C566467 http://purl.bioontology.org/ontology/MESH/C567608 http://purl.bioontology.org/ontology/MESH/C537476 http://purl.bioontology.org/ontology/MESH/C566945 http://purl.bioontology.org/ontology/MESH/C565376 http://purl.bioontology.org/ontology/MESH/C567769 http://purl.bioontology.org/ontology/MESH/C564026 http://purl.bioontology.org/ontology/MESH/C567624 http://purl.bioontology.org/ontology/MESH/C540770
MDA	19920522
MMR	20120703
MN	C18.452.660.560 C05.651.460 C10.668.491.500
notation	D017240
prefLabel	Mitochondrial Myopathies
TERMUI	T812058 T440505 T051397 T440506 T369288 T051399 T051398
TH	NLM (1993) NLM (2002) NLM (2000) OMIM (2013)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D028361 http://purl.bioontology.org/ontology/MESH/D009135

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Mapping To	Ontology	Source
http://purl.bmicc.cn/ontology/ICD11CN/8C73	International Classification of Diseases, 11th Edition, China	LOOM
http://purl.bioontology.org/ontology/OMIM/590000	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/590065	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/590055	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU005171	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/251900	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/590095	Online Mendelian Inheritance in Man	CUI