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Human Disease
mitochondrial DNA depletion syndrome 16
- Term ID
- DOID:0070446
- Synonyms
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- mitochondrial DNA depletion syndrome 16 (hepatic type)
- Definition
- A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. (2)
- References
- Ontology
- Human Disease ( DOID:0070446 )
- is a type of
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