loading...| Preferred Name | hereditary fructose intolerance | |
| Synonyms |
aldolase B deficiency Aldob deficiency fructose-1-phosphate aldolase deficiency hereditary fructosemia Fructose Intolerance, Hereditary hereditary fructose intolerance fructose intolerance fructosemia Fructosaemia hereditary fructose intolerance syndrome fructose intolerance, hereditary fructose-1,6-bisphosphate aldolase B deficiency 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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| closeMatch | ||
| database_cross_reference |
NCIT:C84720 ICD10CM:E74.12 NANDO:2200531 SCTID:20052008 OMIM:229600 icd11.foundation:1925240365 UMLS:C0016751 Orphanet:469 MEDGEN:42105 MedDRA:10019878 DOID:9869 GARD:6622 ICD9:271.2 NORD:1166 |
|
| 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://www.orpha.net/ORDO/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 |
hereditary fructosemia Fructose Intolerance, Hereditary hereditary fructose intolerance fructose intolerance fructosemia Fructosaemia hereditary fructose intolerance syndrome fructose intolerance, hereditary fructose-1,6-bisphosphate aldolase B deficiency hereditary fructose-1-phosphate aldolase deficiency |
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| has_related_synonym |
aldolase B deficiency Aldob deficiency fructose-1-phosphate aldolase deficiency |
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| IAO_0000233 | ||
| id |
MONDO:0009249 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| 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 |