Details of Disease

General Information of Disease (ID: DISD25E9)

Disease Name Combined oxidative phosphorylation deficiency 46
Synonyms COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46; combined oxidative phosphorylation defiency 46
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DISD25E9: Combined oxidative phosphorylation deficiency 46
Disease Identifiers
MONDO ID
MONDO_0033534
UMLS CUI
C5436466
OMIM ID
618952
MedGen ID
1752252

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
MRPS23 OTDVWT5V Limited Unknown [1]
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References

1 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. PLoS Genet. 2016 Jan 7;12(1):e1005679. doi: 10.1371/journal.pgen.1005679. eCollection 2016 Jan.