Preferred Name

mitochondrial disease/disorder

Synonyms

MELAS

Definitions

diseases caused by abnormal function of the mitochondria; may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components; 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/CSP/5000-0048

altLabel

MELAS

subacute necrotizing encephalomyelopathy

mitochondrial myopathy

Leber's disease

mitochondrial disease

Leigh disease

Leber's hereditary optic neuropathy

Leber's optic atrophy

MILS

mitochondrial disorder

MNGIE

mitochondrial encephalomyopathy

cui

C0872218

C0162670

C2931092

C0023264

C0162671

C0917796

C0162666

C0751651

definition

diseases caused by abnormal function of the mitochondria; may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components; may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.

DID

5000-0048

Inverse of RB

http://purl.bioontology.org/ontology/CSP/1846-2030

Inverse of RO

http://purl.bioontology.org/ontology/CSP/0596-9251

http://purl.bioontology.org/ontology/CSP/2102-0007

notation

5000-0048

prefLabel

mitochondrial disease/disorder

tui

T047

subClassOf

http://purl.bioontology.org/ontology/CSP/1846-2030

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/590060 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10027710 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/C536035 MESH CUI
http://purl.bioontology.org/ontology/OMIM/590060 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/516006 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/DA-77528 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10058799 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/240096000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10065271 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C536350 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/718214007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10065271 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/718214007 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/603041 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10065271 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10027710 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D017240 MESH 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/SNOMEDCT/717052002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/717052002 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D007888 MESH CUI
http://purl.bioontology.org/ontology/OMIM/MTHU039986 OMIM CUI
http://purl.bioontology.org/ontology/MSHFRE/D007888 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/590095 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/DA-20161 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10062950 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10062950 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10062950 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/590105 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/29570005 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/256000 OMIM CUI
http://purl.bioontology.org/ontology/ICD10CM/G31.82 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/29570005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001801 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/F10y1 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/39925003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/590020 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10067602 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D017241 MESH CUI
http://purl.bioontology.org/ontology/OMIM/590030 OMIM CUI
http://purl.bioontology.org/ontology/RCD/X40U0 RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10067602 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/DA-51640 SNMI CUI
http://purl.bioontology.org/ontology/OMIM/590070 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/39925003 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/516000 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10053872 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E88.41 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10053872 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10067602 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003560 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/590050 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10053872 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/516005 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/540000 OMIM CUI
http://purl.bioontology.org/ontology/MSHFRE/D017241 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/516003 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/516006 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/516060 OMIM CUI
http://purl.bioontology.org/ontology/MSHFRE/D029242 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10062951 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/516004 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/516020 OMIM CUI
http://purl.bioontology.org/ontology/ICD10CM/H47.22 ICD10CM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000010951 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/58610003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/516000 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/516030 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/516001 OMIM CUI
http://purl.bioontology.org/ontology/MESH/D029242 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/58610003 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10062951 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10062951 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/516005 OMIM CUI
http://purl.bioontology.org/ontology/RCD/F4H16 RCD CUI
http://purl.bioontology.org/ontology/OMIM/516050 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/516003 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/535000 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/447292006 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/516020 OMIM CUI
http://purl.bioontology.org/ontology/MSHFRE/D017237 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/590095 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/590005 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10058799 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D017237 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10058799 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003558 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/590050 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/447292006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/590055 OMIM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000010931 NDFRT CUI
http://purl.bioontology.org/ontology/MESH/D028361 MESH CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0751651 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MSHFRE/D028361 MSHFRE CUI