Details of Disease | DrugMAP

General Information of Disease (ID: DISG3QXJ)

Disease Name	Combined oxidative phosphorylation deficiency 50
Synonyms	COXPD50; COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50
Disease Hierarchy	DISYKSRF: Genetic disease DISG3QXJ: Combined oxidative phosphorylation deficiency 50
Disease Identifiers	MONDO ID MONDO_0033570 UMLS CUI C5436623 OMIM ID 619025 MedGen ID 1753519

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
MRPS25	OTN7IISS	Limited	Unknown	[1]
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References

1	MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Hum Mol Genet. 2019 Aug 15;28(16):2711-2719. doi: 10.1093/hmg/ddz093.