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ONTOLOGY REPORT - ANNOTATIONS


Term:fructose-1,6-bisphosphatase deficiency
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Accession:DOID:5204 term browser browse the term
Definition:An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.
Synonyms:exact_synonym: FBP1D;   Fructose Biphosphatase Deficiency;   Fructose-1,6-Diphosphatase Deficiencies;   Fructose-1,6-Diphosphatase Deficiency;   Fructose-Biphosphatase Deficiencies;   Fructosediphosphatase Deficiencies;   Fructosediphosphatase Deficiency;   Hexosediphosphatase Deficiencies;   fructose 1 phosphate aldolase deficiency;   fructose-1,6-bisphosphatase deficiencies;   hexosediphosphatase deficiency
 primary_id: MESH:D015319
 alt_id: OMIM:229700;   RDO:0003812
 xref: NCI:C128119
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fructose-1,6-bisphosphatase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbp1 fructose-bisphosphatase 1 JBrowse link 17 396,175 417,480 RGD:1601165
RGD:7240710
RGD:8554872
RGD:11554173

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  disease 14924
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        inherited metabolic disorder 1780
          carbohydrate metabolic disorder 289
            fructose-1,6-bisphosphatase deficiency 1
              Baker-Winegrad Disease 0
Path 2
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          inherited metabolic disorder 1780
            carbohydrate metabolic disorder 289
              Fructose Metabolism, Inborn Errors 5
                fructose-1,6-bisphosphatase deficiency 1
                  Baker-Winegrad Disease 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.