OBO ID: DOID:0080121
Term Name: mitochondrial DNA depletion syndrome 3 Search Ontology:
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. (4)
References:
Ontology: Human Disease   (DOID:0080121)
OTHER mitochondrial DNA depletion syndrome 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DGUOK Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 251880
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None