Details of Disease

General Information of Disease (ID: DISNUICA)

Disease Name Combined oxidative phosphorylation deficiency 38
Synonyms COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38; COXPD38
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DISNUICA: Combined oxidative phosphorylation deficiency 38
Disease Identifiers
MONDO ID
MONDO_0032712
UMLS CUI
C5193064
OMIM ID
618378
MedGen ID
1682102

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
MRPS14 OTA8H3LB Limited Unknown [1]
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References

1 A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Hum Mol Genet. 2019 Feb 15;28(4):639-649. doi: 10.1093/hmg/ddy374.