Details of Disease

General Information of Disease (ID: DISMZY3E)

Disease Name Combined oxidative phosphorylation deficiency 48
Synonyms COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DISMZY3E: Combined oxidative phosphorylation deficiency 48
Disease Identifiers
MONDO ID
MONDO_0033566
UMLS CUI
C5436602
OMIM ID
619012
MedGen ID
1732052

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NSUN3 OTLBKU22 Limited Autosomal recessive [1]
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References

1 Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3. Nat Commun. 2016 Jun 30;7:12039. doi: 10.1038/ncomms12039.