loading...| 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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| altLabel |
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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| 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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| 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 | ||
| label |
hereditary fructose intolerance |
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| prefixIRI |
MONDO:0009249 |
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| prefLabel |
hereditary fructose intolerance |
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| textual 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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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017689 http://purl.obolibrary.org/obo/MONDO_0800152 http://purl.obolibrary.org/obo/MONDO_0100191 |