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Metadata
ID	DOID:0080121
Name	mitochondrial DNA depletion syndrome 3
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. https://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/24423689, https://www.ncbi.nlm.nih.gov/pubmed/30589726, https://www.omim.org/entry/251880
Xrefs	GARD:13644 MESH:C580039 OMIM:251880 ORDO:279934
Subsets	DO_rare_slim
Synonyms	deoxyguanosine kinase deficiency [EXACT]
Parent Relationships	is_a mitochondrial DNA depletion syndrome is_a autosomal recessive disease