Details of Disease

General Information of Disease (ID: DISIQS66)

Disease Name Mitochondrial DNA depletion syndrome 20 (mngie type)
Synonyms MTDPS20; mitochondrial neurogastrointestinal encephalomyopathy syndrome, lig3-related; mitochondrial DNA depletion syndrome 20 (mngie type)
Disease Hierarchy
DISIGZSM: Mitochondrial DNA depletion syndrome
DISIQS66: Mitochondrial DNA depletion syndrome 20 (mngie type)
Disease Identifiers
MONDO ID
MONDO_0030696
UMLS CUI
C5676934
OMIM ID
619780
MedGen ID
1804209

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
LIG3 OT48SKET Strong Autosomal recessive [1]
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References

1 Genetic basis of relapsing polychondritis revealed by family-based whole-exome sequencing. Int J Rheum Dis. 2020 May;23(5):641-646. doi: 10.1111/1756-185X.13809. Epub 2020 Feb 27.