Details of Disease

General Information of Disease (ID: DIS9YQPN)

Disease Name Combined oxidative phosphorylation deficiency 45
Synonyms COXPD45; COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DIS9YQPN: Combined oxidative phosphorylation deficiency 45
Disease Identifiers
MONDO ID
MONDO_0033533
UMLS CUI
C5436461
OMIM ID
618951
MedGen ID
1731010

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
MRPL12 OTU41AM0 Limited Unknown [1]
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References

1 Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency. Biochim Biophys Acta. 2013 Aug;1832(8):1304-12. doi: 10.1016/j.bbadis.2013.04.014. Epub 2013 Apr 18.