Term Name: | mitochondrial DNA depletion syndrome 16 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0070446] ( DOID:0070446 ) |