{"orpha":309830,"name":"Disorder of catecholamine synthesis","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-309830/","orphanet_url":"https://www.orpha.net/en/disease/detail/309830","names":{"fr":{"name":"Anomalie de synthèse des catécholamines"},"de":{"name":"Katecholaminsynthesedefekt"},"es":{"name":"Trastornos de la síntesis de catecolaminas"},"it":{"name":"Difetto della sintesi delle catecolamine"},"nl":{"name":"Stoornis van catecholaminesynthese"},"pt":{"name":"Alteração da síntese de catecolaminas"},"pl":{"name":"Zaburzenia syntezy katecholamin"},"cs":{"name":"Poruchy syntézy katecholaminů"},"uk":{"name":"Порушення синтезу катехоламінів"},"zh":{"name":"儿茶酚胺合成障碍"},"tr":{"name":"Katekolamin sentezi bozukluğu"}},"xrefs":[{"source":"ICD-11","code":"5C59.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1382276026"},{"source":"MONDO","code":"0017759","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17759","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342685","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79169,"name":"Disorder of neurotransmitter metabolism and transport","classifications":[150,156]}],"children":[{"orpha":35708,"name":"Aromatic L-amino acid decarboxylase deficiency","type":"Disease"},{"orpha":230,"name":"Dopamine beta-hydroxylase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}