{"orpha":68367,"name":"Rare inborn error of metabolism","type":"Category","group":"Group of disorders","status":"active","flags":["Head of classification"],"synonyms":["Rare metabolic disease"],"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-68367/","orphanet_url":"https://www.orpha.net/en/disease/detail/68367","names":{"fr":{"name":"Erreur innée rare du métabolisme","synonyms":["Maladie métabolique rare"]},"de":{"name":"Seltene angeborene Stoffwechselstörung","synonyms":["Seltene Stoffwechselkrankheit"]},"es":{"name":"Error innato raro del metabolismo","synonyms":["Enfermedad metabólica rara"]},"it":{"name":"Errore congenito raro del metabolismo","synonyms":["Malattia metabolica rara"]},"nl":{"name":"Zeldzame aangeboren stofwisselingsziekte","synonyms":["Zeldzame metabole ziekte","Zeldzame stofwisselingsziekte","Zeldzaam aangeboren defect van stofwisseling","Zeldzame stofwisselingsstoornis"]},"pt":{"name":"Erros congénitos do metabolismo raros","synonyms":["Doença metabólica rara"]},"pl":{"name":"Rzadkie wrodzone wady metabolizmu","synonyms":["Rzadka choroba metaboliczna"]},"cs":{"name":"Vzácné vrozené poruchy metabolismu","synonyms":["Vzácné metabolické onemocnění"]},"uk":{"name":"Рідкісні вроджені помилки метаболізму","synonyms":["Рідкісне метаболічне захворювання"]},"zh":{"name":"罕见先天性代谢异常","synonyms":["罕见代谢疾病"]},"tr":{"name":"Nadir doğumsal metabolizma hataları","synonyms":["Nadir metabolik hastalık"]}},"xrefs":[{"source":"MONDO","code":"19052","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680169","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2860,"name":"OBSOLETE: Preeyasombat-Varavithya syndrome","status":"inactive"},{"type":"Referred to","orpha":3284,"name":"OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome","status":"inactive"},{"type":"Referred to","orpha":98710,"name":"OBSOLETE: Metabolic disease associated with ocular features","status":"inactive"},{"type":"Referred to","orpha":98711,"name":"OBSOLETE: Metabolic disease with corneal opacity","status":"inactive"},{"type":"Referred to","orpha":98713,"name":"OBSOLETE: Metabolic disease with pigmentary retinitis","status":"inactive"},{"type":"Referred to","orpha":98714,"name":"OBSOLETE: Metabolic disease with macular cherry-red spot","status":"inactive"}],"preferential_parent":null,"parents":[{"orpha":98053,"name":"Rare genetic disease","classifications":[156]}],"children":[{"orpha":137,"name":"Congenital disorder of glycosylation","type":"Category"},{"orpha":79062,"name":"Disorder of amino acid and other organic acid metabolism","type":"Category"},{"orpha":79214,"name":"Disorder of biogenic amine metabolism and transport","type":"Category"},{"orpha":79161,"name":"Disorder of carbohydrate metabolism","type":"Category"},{"orpha":79200,"name":"Disorder of energy metabolism","type":"Category"},{"orpha":309005,"name":"Disorder of lipid metabolism","type":"Category"},{"orpha":309340,"name":"Disorder of lysosomal-related organelles","type":"Category"},{"orpha":309824,"name":"Disorder of metabolite absorption and transport","type":"Category"},{"orpha":309813,"name":"Disorder of porphyrin and heme metabolism","type":"Category"},{"orpha":79224,"name":"Disorder of purine or pyrimidine metabolism","type":"Category"},{"orpha":68366,"name":"Lysosomal disease","type":"Category"},{"orpha":91088,"name":"Other metabolic disease","type":"Category"},{"orpha":68373,"name":"Peroxisomal disease","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.3,"area":"Germany","status":"Validated","source":"21689452[PMID]"}],"phenotypes":null}