Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Mitochondrial Diseases
Synonyms	Deficiency, Oxidative Phosphorylation Mitochondrial Disease
Definitions	Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
ID	http://purl.bioontology.org/ontology/MESH/D028361
altLabel	Deficiency, Oxidative Phosphorylation Disorder, Mitochondrial Mitochondrial Defects Mitochondrial Defect Mitochondrial Respiratory Chain Deficiencies Dysfunction, Mitochondrial Mitochondrial Dysfunction Mitochondria Dysfunctions Mitochondrial Dysfunctions Phosphorylation Deficiency, Oxidative Respiratory Chain Deficiencies, Mitochondrial Oxidative Phosphorylation Deficiency Electron Transport Chain Deficiencies, Mitochondrial Mitochondrial Electron Transport Chain Deficiencies Oxidative Phosphorylation Deficiencies Mitochondria Dysfunction Dysfunction, Mitochondria Mitochondrial Disorders Defect, Mitochondrial Disease, Mitochondrial Mitochondrial Disorder Mitochondrial Disease
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	C5828574 C0949855 C0949857 C0949856 C4021734 C0751651
DC	1
definition	Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
DX	20020101
HN	2002; use MITOCHONDRIAL MYOPATHIES 2000-2001
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
Machine permutation	2002; see MITOCHONDRIAL MYOPATHIES 2000-2001
Mapped from	http://purl.bioontology.org/ontology/MESH/C537934 http://purl.bioontology.org/ontology/MESH/C563453 http://purl.bioontology.org/ontology/MESH/C564710 http://purl.bioontology.org/ontology/MESH/C563575 http://purl.bioontology.org/ontology/MESH/C563578 http://purl.bioontology.org/ontology/MESH/C563576 http://purl.bioontology.org/ontology/MESH/C564395 http://purl.bioontology.org/ontology/MESH/C567847 http://purl.bioontology.org/ontology/MESH/C565128 http://purl.bioontology.org/ontology/MESH/C565767 http://purl.bioontology.org/ontology/MESH/C537633 http://purl.bioontology.org/ontology/MESH/C565733 http://purl.bioontology.org/ontology/MESH/C565498 http://purl.bioontology.org/ontology/MESH/C567337 http://purl.bioontology.org/ontology/MESH/C538344 http://purl.bioontology.org/ontology/MESH/C536353 http://purl.bioontology.org/ontology/MESH/C563698 http://purl.bioontology.org/ontology/MESH/C579990 http://purl.bioontology.org/ontology/MESH/C567768 http://purl.bioontology.org/ontology/MESH/C537475 http://purl.bioontology.org/ontology/MESH/C579922 http://purl.bioontology.org/ontology/MESH/C580473 http://purl.bioontology.org/ontology/MESH/C563463 http://purl.bioontology.org/ontology/MESH/C563461 http://purl.bioontology.org/ontology/MESH/C564971 http://purl.bioontology.org/ontology/MESH/C564890 http://purl.bioontology.org/ontology/MESH/C567390 http://purl.bioontology.org/ontology/MESH/C536246 http://purl.bioontology.org/ontology/MESH/C563665 http://purl.bioontology.org/ontology/MESH/C564020 http://purl.bioontology.org/ontology/MESH/C580039 http://purl.bioontology.org/ontology/MESH/C564403 http://purl.bioontology.org/ontology/MESH/C567126 http://purl.bioontology.org/ontology/MESH/C566566 http://purl.bioontology.org/ontology/MESH/C567784 http://purl.bioontology.org/ontology/MESH/C564015 http://purl.bioontology.org/ontology/MESH/C567006 http://purl.bioontology.org/ontology/MESH/C567009 http://purl.bioontology.org/ontology/MESH/C564925 http://purl.bioontology.org/ontology/MESH/C565304 http://purl.bioontology.org/ontology/MESH/C537236 http://purl.bioontology.org/ontology/MESH/C565690 http://purl.bioontology.org/ontology/MESH/C565375
MDA	20010803
MMR	20230405
MN	C18.452.660
notation	D028361
prefLabel	Mitochondrial Diseases
TERMUI	T001132806 T001132805 T369290 T440504 T001132807 T440501 T446817 T440502 T440503 T369289
TH	NLM (2002) NLM (2000) NLM (2024)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D008659

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D028361	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D028361	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D028361	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU075277	OMIM	CUI
http://purl.bioontology.org/ontology/CSP/5000-0048	CRISP	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/240096000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000010931	NDFRT	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0751651	MEDLINEPLUS	CUI
http://purl.bioontology.org/ontology/MSHFRE/D028361	MSHFRE	CUI
http://doe-generated-ontology.com/OntoAD#C0751651	ONTOAD	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038581	PMAPP-PMO	LOOM
http://localhost/plosthes.2017-1#6948	PLOSTHES	LOOM
http://purl.obolibrary.org/obo/OMIT_0021431	OMIT	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#48471	OCHV	LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0751651	MEDLINEPLUS	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.660	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D028361	RH-MESH	LOOM