Details of Disease

General Information of Disease (ID: DIS5CFA7)

Disease Name Mitochondrial complex 4 deficiency, nuclear type 11
Synonyms mitochondrial complex IV deficiency, nuclear type 11; MC4DN11
Disease Hierarchy
DISP1YY2: Mitochondrial complex IV deficiency, nuclear-type
DIS5CFA7: Mitochondrial complex 4 deficiency, nuclear type 11
Disease Identifiers
MONDO ID
MONDO_0033645
UMLS CUI
C5436694
OMIM ID
619054
MedGen ID
1760275

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
COX20 OTXL7EP2 Strong Autosomal recessive [1]
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References

1 How caustics were used to treat skin cancer. J Dermatol Surg Oncol. 1979 Dec;5(12):949-50. doi: 10.1111/j.1524-4725.1979.tb00791.x.