FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mitochondrial DNA depletion syndrome 16 ID (Ontology) DOID:0070446 (Human Disease)
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.
Also Known As "mitochondrial DNA depletion syndrome 16 (hepatic type)"
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 Genes
 mitochondrial DNA depletion syndrome 16       1
 for disease ribbon | mitochondrial DNA depletion syndrome 16       1
 model of | mitochondrial DNA depletion syndrome 16       1
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autosomal genetic disease
 |__autosomal recessive disease___________
mitochondrial metabolism disease          |
 |__mitochondrial DNA depletion syndrome__|
                                          mitochondrial DNA depletion syndrome 16  1 rec.
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Is a autosomal recessive disease
mitochondrial DNA depletion syndrome
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Synonyms
  • "mitochondrial DNA depletion syndrome 16 (hepatic type)" EXACT
Secondary IDs
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MIM:618528