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mitochondrial DNA depletion syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018158

The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. [ Orphanet:35698 ]

Synonyms: mtDNA depletion syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MedDRA:10059396 (Orphanet:35698/e)
  • OMIMPS:603041 (MONDO:equivalentTo)
  • DOID:0070329 (MONDO:equivalentTo)
  • GARD:13643 (Orphanet:35698)
  • Orphanet:35698 (MONDO:equivalentTo)
  • UMLS:C0342782 (Orphanet:35698/e)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10059396

exactMatch

http://linkedlifedata.com/resource/umls/id/C0342782

http://www.orpha.net/ORDO/Orphanet_35698

http://purl.obolibrary.org/obo/DOID_0070329

https://omim.org/phenotypicSeries/PS603041

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015188

id

MONDO:0018158