Details of Disease

General Information of Disease (ID: DISA3OOG)

Disease Name Mitochondrial DNA depletion syndrome 16 (hepatic type)
Synonyms MTDPS16; MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)
Disease Hierarchy
DISIGZSM: Mitochondrial DNA depletion syndrome
DISA3OOG: Mitochondrial DNA depletion syndrome 16 (hepatic type)
Disease Identifiers
MONDO ID
MONDO_0032799
UMLS CUI
C5193142
OMIM ID
618528
MedGen ID
1684495

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
POLG2 OTDBMZJB 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.