Details of Disease

General Information of Disease (ID: DISUR31D)

Disease Name Mitochondrial complex 4 deficiency, nuclear type 12
Synonyms MC4DN12; mitochondrial complex IV deficiency, nuclear type 12
Disease Hierarchy
DISP1YY2: Mitochondrial complex IV deficiency, nuclear-type
DISUR31D: Mitochondrial complex 4 deficiency, nuclear type 12
Disease Identifiers
MONDO ID
MONDO_0033646
UMLS CUI
C5436695
OMIM ID
619055
MedGen ID
1745691

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
PET100 OTQ0J3DT Strong Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.