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inborn mitochondrial metabolism disorder

^ http://purl.obolibrary.org/obo/MONDO_0004069

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. [ MESH:D028361 ]

Term info

database cross reference
  • DOID:700 (MONDO:equivalentTo)
  • UMLS:CN552492 (MONDO:relatedTo)
  • Orphanet:68380 (MONDO:equivalentTo)
  • MESH:D028361 (Orphanet:68380/e)
  • GARD:0007048 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_68380, http://purl.obolibrary.org/obo/DOID_700, http://identifiers.org/mesh/D028361

has broad synonym

mitochondrial disease

has related synonym

mitochondrial genetic disorders, mitochondrial metabolism disease

id

MONDO:0004069

relatedMatch

http://linkedlifedata.com/resource/umls/id/CN552492

seeAlso

https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders