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Human Disease
mitochondrial DNA depletion syndrome 3
- Term ID
- DOID:0080121
- Synonyms
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- 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
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- GARD:13644
- MESH:C580039
- MIM:251880
- ORDO:279934
- Ontology
- Human Disease ( DOID:0080121 )
- is a type of
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