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DO Term : mitochondrial DNA depletion syndrome 16 [DOID:0070446] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:618528,
  • mitochondrial DNA depletion syndrome 16 (hepatic type),
  • 618528
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Disease

Diseases --> Human genes

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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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