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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:fructose-1,6-bisphosphatase deficiency
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Accession:DOID:5204 term browser browse the term
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. (DO)
Synonyms:exact_synonym: FBP1D;   Fructose Biphosphatase Deficiency;   Fructose-1,6-Diphosphatase Deficiency;   Fructose-Biphosphatase Deficiencies;   Fructosediphosphatase Deficiencies;   Fructosediphosphatase Deficiency;   fructose 1 phosphate aldolase deficiency;   fructose-1,6-bisphosphatase deficiencies;   fructose-1,6-diphosphatase deficiencies;   hexosediphosphatase deficiencies;   hexosediphosphatase deficiency
 primary_id: MESH:D015319
 alt_id: OMIM:229700
 xref: GARD:2400;   ICD10CM:E74.19;   NCI:C128119
For additional species annotation, visit the Alliance of Genome Resources.



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fructose-1,6-bisphosphatase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldob aldolase, fructose-bisphosphate B ISO ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency ClinVar PMID:1772121 PMID:1856829 PMID:1928090 PMID:1967768 PMID:2203259 More... NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116
JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency ClinVar PMID:20096397 PMID:22402862 PMID:22980763 PMID:23041008 PMID:23606453 More... NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO DNA:insertion, DNA:point mutations:G164S, A177D, Q30X
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency
OMIM
CTD
ClinVar
RGD
PMID:7763253 PMID:9382095 PMID:9536098 PMID:11286391 PMID:12126934 More... RGD:1601165 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    Nutritional and Metabolic Diseases 6773
      disease of metabolism 6773
        inherited metabolic disorder 4675
          carbohydrate metabolic disorder 2566
            fructose-1,6-bisphosphatase deficiency 3
              Baker-Winegrad Disease 0
Path 2
Term Annotations click to browse term
  disease 18162
    Developmental Disease 12942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11671
        genetic disease 11175
          inherited metabolic disorder 4675
            carbohydrate metabolic disorder 2566
              Fructose Metabolism, Inborn Errors 6
                fructose-1,6-bisphosphatase deficiency 3
                  Baker-Winegrad Disease 0
paths to the root