|
DOID:0080121 - mitochondrial DNA depletion syndrome 3
Disease Ontology 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.
Synonyms: deoxyguanosine kinase deficiency,
Xenbase Genes : sucla2, twnk, tk2, dguok
MONDO:0009636 - mitochondrial DNA depletion syndrome 3 (hepatocerebral type) |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
mitochondrial DNA depletion syndrome (is_a),
mitochondrial metabolism disease (is_a)