mitochondrial DNA depletion syndrome 16 Disease Ontology Browser

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mitochondrial DNA depletion syndrome 16 (DOID:0070446)
Alliance: disease page
Synonyms: mitochondrial DNA depletion syndrome 16 (hepatic type)
Alt IDs: OMIM:618528
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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