|OBO ID: DOID:0080121|
|Term Name:||mitochondrial DNA depletion syndrome 3||Search 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. (4)|
|Ontology:||Human Disease (DOID:0080121)|
|is a type of:||
OTHER mitochondrial DNA depletion syndrome 3 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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