{"limit":20,"offset":0,"total":3,"items":[{"id":"MONDO:0009249","category":"biolink:Disease","name":"hereditary fructose intolerance","description":"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.","xref":["DOID:9869","GARD:0006622","ICD10CM:E74.12","ICD9:271.2","MEDGEN:42105","MedDRA:10019878","NANDO:2200531","NCIT:C84720","NORD:1166","OMIM:229600","Orphanet:469","SCTID:20052008","UMLS:C0016751","icd11.foundation:1925240365"],"synonym":["Fructosaemia","Fructose Intolerance, Hereditary","fructose intolerance","fructose intolerance, hereditary","fructose-1,6-bisphosphate aldolase B deficiency","fructosemia","hereditary fructose intolerance","hereditary fructose intolerance syndrome","hereditary fructose-1-phosphate aldolase deficiency","hereditary fructosemia"],"exact_synonym":["Fructosaemia","Fructose Intolerance, Hereditary","fructose intolerance","fructose intolerance, hereditary","fructose-1,6-bisphosphate aldolase B deficiency","fructosemia","hereditary fructose intolerance","hereditary fructose intolerance syndrome","hereditary fructose-1-phosphate aldolase deficiency","hereditary fructosemia"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["gard_rare","ncit_rare","nord_rare","ordo_disorder","orphanet_rare","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":98.86476,"matched_field":"name","match_type":"exact","highlighting":{"name":["<em>hereditary</em> <em>fructose</em> <em>intolerance</em>"],"description":["<em>Hereditary</em> <em>fructose</em> <em>intolerance</em> (HFI) is an autosomal recessive disorder of <em>fructose</em> metabolism"],"synonym":["<em>Fructose</em> <em>Intolerance</em>, <em>Hereditary</em>"]}},{"id":"MONDO:0021759","category":"biolink:Disease","name":"acquired fructose intolerance","description":"Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications.","xref":["MEDGEN:288539","SCTID:413427002","UMLS:C1531694"],"synonym":["acquired fructose intolerance","dietary fructose intolerance","fructose malabsorption","intestinal fructose intolerance"],"exact_synonym":["acquired fructose intolerance"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["dietary fructose intolerance","fructose malabsorption","intestinal fructose intolerance"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["inferred_rare","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":70.394844,"matched_field":null,"match_type":null,"highlighting":{"name":["acquired <em>fructose</em> <em>intolerance</em>"],"description":[" form of <em>fructose</em> <em>intolerance</em> (called <em>hereditary</em> <em>fructose</em> <em>intolerance</em>), which usually develops earlier"],"synonym":["acquired <em>fructose</em> <em>intolerance</em>"]}},{"id":"MONDO:0004906","category":"biolink:Disease","name":"obsolete hereditary fructose intolerance syndrome","description":null,"xref":null,"synonym":null,"exact_synonym":null,"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":true,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":null,"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":8.279901,"matched_field":null,"match_type":null,"highlighting":{"name":["obsolete <em>hereditary</em> <em>fructose</em> <em>intolerance</em> syndrome"]}}],"facet_fields":[{"label":"category","facet_values":[{"label":"biolink:Disease","count":3}]},{"label":"in_taxon_label","facet_values":[]}],"facet_queries":[],"scope":null}