Details of Disease

General Information of Disease (ID: DIS1VG3L)

Disease Name Combined oxidative phosphorylation deficiency 55
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DIS1VG3L: Combined oxidative phosphorylation deficiency 55
Disease Identifiers
MONDO ID
MONDO_0859228
UMLS CUI
C5676915
OMIM ID
619743
MedGen ID
1806598

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
POLRMT OT5Q8ZUJ Strong Autosomal recessive [1]
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References

1 Effect of inbreeding on intellectual disability revisited by trio sequencing. Clin Genet. 2019 Jan;95(1):151-159. doi: 10.1111/cge.13463. Epub 2018 Nov 19.