{"orpha":79166,"name":"Disorder of amino acid absorption and transport","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-79166/","orphanet_url":"https://www.orpha.net/en/disease/detail/79166","names":{"fr":{"name":"Trouble de l'absorption et du transport des acides aminés"},"de":{"name":"Aminosäureaufnahme- und Transport-Störung"},"es":{"name":"Trastornos de la absorción y transporte de aminoácidos"},"it":{"name":"Difetto del trasporto e dell'assorbimento degli amminoacidi"},"nl":{"name":"Stoornis van aminozuurabsorptie en -transport"},"pt":{"name":"Doença do transporte de aminoácidos"},"pl":{"name":"Zaburzenie absorpcji i transportu aminokwasów"},"cs":{"name":"Poruchy vstřebávání a transportu aminokyselin"},"uk":{"name":"Порушення засвоєння та транспортування амінокислот"},"zh":{"name":"氨基酸吸收和转运异常"},"tr":{"name":"Amino asit emilimi ve taşınmasında bozukluk"}},"xrefs":[{"source":"ICD-10","code":"E72.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C60","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1631611896"},{"source":"MONDO","code":"0019216","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19216","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268641","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79062,"name":"Disorder of amino acid and other organic acid metabolism","classifications":[150,156]}],"children":[{"orpha":363429,"name":"Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome","type":"Disease"},{"orpha":94086,"name":"Blue diaper syndrome","type":"Disease"},{"orpha":214,"name":"Cystinuria","type":"Disease"},{"orpha":2195,"name":"Dicarboxylic aminoaciduria","type":"Disease"},{"orpha":308451,"name":"Disorder of neutral amino acid transport","type":"Category"},{"orpha":238517,"name":"Hypotonia-cystinuria type 1 syndrome","type":"Clinical group"},{"orpha":470,"name":"Lysinuric protein intolerance","type":"Disease"},{"orpha":534,"name":"Oculocerebrorenal syndrome of Lowe","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}