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DO Term : fructose-1,6-bisphosphatase deficiency [DOID:5204] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.
  • synonyms:
  • ICD10CM:E74.19,
  • SNOMEDCT_US_2023_03_01:28183005,
  • fructose 1 phosphate aldolase deficiency,
  • OMIM:229700,
  • NCI:C128119,
  • MESH:D015319,
  • 229700,
  • fructose-1,6-diphosphatase deficiency,
  • UMLS_CUI:C0016756,
  • GARD:2400
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Ontology Term --> Direct parents