Term Name: mitochondrial DNA depletion syndrome 3
Synonyms: deoxyguanosine kinase deficiency
Definition: A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13.
Ontology: Human Disease [DOID:0080121]   ( DOID:0080121 )

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