Details of Disease

General Information of Disease (ID: DISJ7ZNS)

Disease Name Mitochondrial complex 3 deficiency, nuclear type 10
Synonyms MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
Disease Hierarchy
DISNWMK9: Mitochondrial complex III deficiency, nuclear type
DISJ7ZNS: Mitochondrial complex 3 deficiency, nuclear type 10
Disease Identifiers
MONDO ID
MONDO_0032909
UMLS CUI
C5394051
OMIM ID
618775
MedGen ID
1719382

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
UQCRFS1 OTA2AXFN Limited 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.