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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.


show annotations for term's descendants           Sort by:
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:23193613 More... NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency ClinVar PMID:18541450 PMID:28492532 NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685 		JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO DNA:insertion, DNA:point mutations:G164S, A177D, Q30X
ClinVar Annotator: match by term: Fructose-biphosphatase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency		 ClinVar
OMIM
CTD
RGD		 PMID:7763253 PMID:9382095 PMID:9536098 PMID:10234608 PMID:11286391 More... RGD:1601165 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071 		JBrowse link
G Grin3a glutamate ionotropic receptor NMDA type subunit 3A ISO ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency ClinVar PMID:18541450 PMID:28492532 NCBI chr 5:64,006,847...64,206,408
Ensembl chr 5:64,009,980...64,206,085 		JBrowse link
G Mrpl50 mitochondrial ribosomal protein L50 ISO ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency ClinVar PMID:18541450 PMID:28492532 NCBI chr 5:63,867,437...63,872,591 JBrowse link
G Pgap4 post-GPI attachment to proteins GalNAc transferase 4 ISO ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency ClinVar PMID:18541450 PMID:28492532 NCBI chr 5:63,931,916...63,947,004
Ensembl chr 5:63,930,682...63,951,716 		JBrowse link
G Ppp3r2 protein phosphatase 3, regulatory subunit B, beta ISO ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency ClinVar PMID:18541450 PMID:28492532 NCBI chr 5:64,026,903...64,027,898
Ensembl chr 5:64,026,903...64,032,548 		JBrowse link
G Rnf20 ring finger protein 20 ISO ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency ClinVar PMID:18541450 PMID:28492532 NCBI chr 5:63,976,063...64,001,754
Ensembl chr 5:63,976,045...64,001,754 		JBrowse link
G Zfp189 zinc finger protein 189 ISO ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency ClinVar PMID:18541450 PMID:28492532 NCBI chr 5:63,872,596...63,884,348
Ensembl chr 5:63,872,738...63,884,121 		JBrowse link
Baker-Winegrad Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbp1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Baker-Winegrad disease ClinVar PMID:10234608 PMID:20151204 PMID:25741868 PMID:28492532 PMID:29774545 More... 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 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          carbohydrate metabolic disorder 3267
            fructose-1,6-bisphosphatase deficiency 10
              Baker-Winegrad Disease 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            carbohydrate metabolic disorder 3267
              Fructose Metabolism, Inborn Errors 13
                fructose-1,6-bisphosphatase deficiency 10
                  Baker-Winegrad Disease 1
paths to the root