FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term fructose-1,6-bisphosphatase deficiency ID (Ontology) DOID:5204 (Human Disease)
Definition 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.
Also Known As "fructose 1 phosphate aldolase deficiency" ; "fructose-1,6-diphosphatase deficiency"
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 Genes
 fructose-1,6-bisphosphatase deficiency       1
 for disease ribbon | fructose-1,6-bisphosphatase deficiency       1
 model of | fructose-1,6-bisphosphatase deficiency       1
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__carbohydrate metabolic disorder
       |__fructose-1,6-bisphosphatase deficiency  1 rec.
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Is a carbohydrate metabolic disorder
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Synonyms
  • "fructose 1 phosphate aldolase deficiency" EXACT
    "fructose-1,6-diphosphatase deficiency" EXACT
Secondary IDs
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GARD:2400
ICD10CM:E74.19
MESH:D015319
MIM:229700
NCI:C128119
SNOMEDCT_US_2023_03_01:28183005
UMLS_CUI:C0016756