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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:An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.
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;   RDO:0003062
 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 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588 		JBrowse link
G Aldob aldolase, fructose-bisphosphate B susceptibility ISO ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency
ClinVar Annotator: match by term: Fructose intolerance
ClinVar Annotator: match by term: Hereditary fructose intolerance
ClinVar Annotator: match by OMIM:229600
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:1772121 PMID:1856829 PMID:1967768 PMID:2203259 PMID:2336380 PMID:2349937 PMID:2623136 PMID:3383242 PMID:6348085 PMID:7717389 PMID:8071980 PMID:8096362 PMID:8299883 PMID:8299892 PMID:8438046 PMID:8535439 PMID:8541450 PMID:9610797 PMID:10024431 PMID:10229688 PMID:10352930 PMID:10625657 PMID:10970798 PMID:11757579 PMID:12205126 PMID:12417303 PMID:12464284 PMID:15532022 PMID:15733923 PMID:15880727 PMID:16406649 PMID:16630753 PMID:18035330 PMID:18541450 PMID:19768653 PMID:20033295 PMID:20848650 PMID:20882353 PMID:21228398 PMID:22494545 PMID:22995991 PMID:23114028 PMID:23430936 PMID:24033266 PMID:25525159 PMID:25595217 PMID:25741868 PMID:26633542 PMID:26677512 PMID:26937407 PMID:27797444 PMID:28492532 PMID:31591370 PMID:32860008, PMID:15532022, PMID:8096362 RGD:1599063, RGD:1300369 NCBI chr 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824 		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 PMID:23663589 PMID:23670307 PMID:24033266 PMID:25741868 PMID:25891276 PMID:28492532 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885 		JBrowse link
G Khk ketohexokinase treatment ISO RGD PMID:29533924 RGD:13673910 NCBI chr 6:26,810,577...26,821,013
Ensembl chr 6:26,810,579...26,820,959 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      hereditary fructose intolerance syndrome 4
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            carbohydrate metabolic disorder 459
              Fructose Metabolism, Inborn Errors 6
                hereditary fructose intolerance syndrome 4
paths to the root