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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:hereditary fructose intolerance syndrome
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Accession:DOID:9869 term browser browse the term
Definition:A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31. (DO)
Synonyms:exact_synonym: ALDOB Deficiency;   ALDOB deficiencies;   ALDOB-RELATED CONDITION;   Aldolase B Deficiency;   Fructose 1 Phosphate Aldolase Deficiency;   Fructose 1,6 Biphosphate Aldolase Deficiency;   Fructose Aldolase B Deficiency;   Fructose Intolerances;   Fructose-1,6-Bisphosphate Aldolase B Deficiency;   aldolase B deficiencies;   fructosaemia;   fructose intolerance;   fructose-1,6-biphosphate aldolase deficiencies;   fructose-1-phosphate aldolase deficiencies;   fructosemia;   fructosemias;   hereditary fructose intolerance;   hereditary fructose intolerances
 xref: ICD10CM:E74.12;   ICD9CM:271.2;   MESH:D005633;   MIM:229600;   MONDO:0009249;   NCI:C84720


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hereditary fructose intolerance syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO RGD PMID:25637246 RGD:13673876 NCBI chr 1:190,832,820...190,838,021
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldob aldolase, fructose-bisphosphate B susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALDOB DEFICIENCY | ClinVar Annotator: match by term: ALDOB-related condition | ClinVar Annotator: match by term: Fructose intolerance | ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency 		OMIM
CTD
ClinVar
RGD		 PMID:1772121 PMID:1856829 PMID:1967768 PMID:2203259 PMID:2336380 More... RGD:1599063, RGD:1300369 NCBI chr 5:68,684,541...68,697,582
Ensembl chr 5:63,889,046...63,902,116 		JBrowse link
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: ALDOB 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: ALDOB DEFICIENCY ClinVar PMID:18541450 PMID:28492532 NCBI chr 5:68,647,166...68,656,137
Ensembl chr 5:63,850,705...63,860,685 		JBrowse link
G Grin3a glutamate ionotropic receptor NMDA type subunit 3A ISO ClinVar Annotator: match by term: ALDOB 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 Khk ketohexokinase treatment ISO RGD PMID:29533924 RGD:13673910 NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717 		JBrowse link
G Mrpl50 mitochondrial ribosomal protein L50 ISO ClinVar Annotator: match by term: ALDOB 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: ALDOB 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: ALDOB DEFICIENCY ClinVar PMID:18541450 PMID:28492532 NCBI chr 5:68,822,387...68,823,382
Ensembl chr 5:64,026,903...64,032,548 		JBrowse link
G Rnf20 ring finger protein 20 ISO ClinVar Annotator: match by term: ALDOB 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: ALDOB DEFICIENCY ClinVar PMID:1967768 PMID:10625657 PMID:12417303 PMID:15880727 PMID:18541450 More... NCBI chr 5:63,872,596...63,884,348
Ensembl chr 5:63,872,738...63,884,121 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      hereditary fructose intolerance syndrome 11
Path 2
Term Annotations click to browse term
  disease 19143
    Developmental Disease 14670
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6627
            carbohydrate metabolic disorder 3418
              Fructose Metabolism, Inborn Errors 14
                hereditary fructose intolerance syndrome 11
paths to the root