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DO Term : D-glyceric aciduria [DOID:0111626] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2.
  • synonyms:
  • OMIM:220120,
  • 220120,
  • D-glycerate kinase deficiency,
  • ORDO:941,
  • non ketotic hyperglycinemia syndrome,
  • GARD:234,
  • ICD10CM:E72.59,
  • MESH:C535767,
  • deficiency of glycerate kinase,
  • UMLS_CUI:C1291386,
  • D-glyceric acidemia,
  • D-glycericacidemia
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