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DO Term : mitochondrial DNA depletion syndrome 3 [DOID:0080121] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • MESH:C580039,
  • ORDO:279934,
  • OMIM:251880,
  • GARD:13644,
  • 251880,
  • deoxyguanosine kinase deficiency
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents