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mitochondrial DNA maintenance syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018121

An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance. [ MONDO:patterns/inborn_metabolic ]

Term info

database cross reference
  • Orphanet:352456 (MONDO:equivalentTo)
  • UMLS:CN204491 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

definition

An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN204491, http://purl.obolibrary.org/obo/Orphanet_352456

has exact synonym

inborn mitochondrial genome maintenance disorder, mtDNA maintenance syndrome, inborn error of mitochondrial genome maintenance, rare inborn error of mitochondrial genome maintenance

id

MONDO:0018121