Term Name: mitochondrial DNA depletion syndrome 16
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 )

Relationships
is a type of: autosomal recessive disease mitochondrial DNA depletion syndrome