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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;   Aldolase B Deficiencies;   Aldolase B Deficiency;   Fructose 1 Phosphate Aldolase Deficiency;   Fructose 1,6 Biphosphate Aldolase Deficiency;   Fructose 1,6 Bisphosphate Aldolase B Deficiency;   Fructose Aldolase B Deficiency;   Fructose Intolerances;   Fructose-1,6-Biphosphate Aldolase Deficiencies;   Fructose-1-Phosphate Aldolase Deficiencies;   Fructosemia;   Fructosemias;   Hereditary Fructose Intolerance;   fructosaemia;   fructose intolerance;   hereditary fructose intolerances
 primary_id: MESH:D005633
 alt_id: OMIM:229600
 xref: ICD10CM:E74.12;   ICD9CM:271.2;   NCI:C84720
For additional species annotation, visit the Alliance of Genome Resources.


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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 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldob aldolase, fructose-bisphosphate B susceptibility ISO ClinVar Annotator: match by term: Fructose intolerance | ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency | ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Hereditary fructose intolerance
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:1772121 PMID:1856829 PMID:1928090 PMID:1967768 PMID:2203259 More... RGD:1599063, RGD:1300369 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: Hereditary fructose intolerance 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 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      hereditary fructose intolerance syndrome 4
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          inherited metabolic disorder 4645
            carbohydrate metabolic disorder 2559
              Fructose Metabolism, Inborn Errors 6
                hereditary fructose intolerance syndrome 4
paths to the root