{"limit":20,"offset":0,"total":1,"items":[{"id":"MONDO:0009475","category":"biolink:Disease","name":"isovaleric acidemia","description":"Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.","xref":["DOID:14753","GARD:0000465","ICD10CM:E71.110","MEDGEN:82822","MESH:C538167","NANDO:1200798","NANDO:2200494","NCIT:C98964","NORD:712","OMIM:243500","Orphanet:33","SCTID:87827003","UMLS:C0268575"],"synonym":["IVA","Isovalericacidemia","isovaleric acid CoA dehydrogenase deficiency","isovaleric acidemia","isovaleryl CoA carboxylase deficiency","isovaleryl-CoA dehydrogenase deficiency"],"exact_synonym":["Isovalericacidemia","isovaleric acid CoA dehydrogenase deficiency","isovaleric acidemia","isovaleryl-CoA dehydrogenase deficiency"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["IVA","isovaleryl CoA carboxylase deficiency"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","doid_rare","gard_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":87.71861,"matched_field":"name","match_type":"exact","highlighting":{"name":["<em>isovaleric</em> <em>acidemia</em>"],"description":["<em>Isovaleric</em> <em>acidemia</em> (IVA) is an autosomal recessively inherited organic aciduria characterized by a"],"synonym":["<em>isovaleric</em> <em>acidemia</em>"]}}],"facet_fields":[{"label":"category","facet_values":[{"label":"biolink:Disease","count":1}]},{"label":"in_taxon_label","facet_values":[]}],"facet_queries":[],"scope":null}