OBO ID: DOID:0080121 |
Term Name: | mitochondrial DNA depletion syndrome 3 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0080121 ) |
OTHER mitochondrial DNA depletion syndrome 3 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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