Details of Disease

General Information of Disease (ID: DISVK7JB)

Disease Name Combined oxidative phosphorylation deficiency 40
Synonyms COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; combined oxidative phosphorylation deficiency 40; COXPD40
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DISVK7JB: Combined oxidative phosphorylation deficiency 40
Disease Identifiers
MONDO ID
MONDO_0030006
UMLS CUI
C5394232
OMIM ID
618835
MedGen ID
1714731
Orphanet ID
570491
SNOMED CT ID
1197430005

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
QRSL1 OTJDU2UG Strong Autosomal recessive [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.