Preferred Name | hereditary fructose intolerance | |
Synonyms |
aldolase B deficiency fructose-1-phosphate aldolase deficiency fructose intolerance, hereditary Aldob deficiency fructose intolerance fructose-1,6-bisphosphate aldolase B deficiency hereditary fructose intolerance hereditary fructose intolerance syndrome hereditary fructosemia Fructosaemia fructosemia hereditary fructose-1-phosphate aldolase deficiency |
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Definitions |
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0009249 |
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bearer_of | ||
closeMatch | ||
database_cross_reference |
MedDRA:10019878 UMLS:C0016751 SCTID:20052008 ICD9:271.2 DOID:9869 OMIM:229600 GARD:6622 NORD:1166 ICD10CM:E74.12 Orphanet:469 NCIT:C84720 |
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definition |
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. |
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exactMatch |
http://identifiers.org/snomedct/20052008 http://purl.obolibrary.org/obo/Orphanet_469 http://purl.bioontology.org/ontology/ICD10CM/E74.12 http://purl.obolibrary.org/obo/DOID_9869 http://linkedlifedata.com/resource/umls/id/C0016751 |
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has_exact_synonym |
fructose intolerance fructose-1,6-bisphosphate aldolase B deficiency hereditary fructose intolerance hereditary fructose intolerance syndrome hereditary fructosemia Fructosaemia fructosemia hereditary fructose-1-phosphate aldolase deficiency |
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has_related_synonym |
aldolase B deficiency fructose-1-phosphate aldolase deficiency fructose intolerance, hereditary Aldob deficiency |
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IAO_0000233 | ||
id |
MONDO:0009249 |
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in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare |
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label |
hereditary fructose intolerance |
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notation |
MONDO:0009249 |
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preferred label |
hereditary fructose intolerance |
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prefLabel |
hereditary fructose intolerance |
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excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017706 |
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subClassOf |