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Human Disease

mitochondrial DNA depletion syndrome 16

Term ID
DOID:0070446
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. (2)
References
Ontology
Human Disease   ( DOID:0070446 )
Relationships
is a type of
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Genes Involved
Zebrafish Models