{"orpha":79387,"name":"Metabolic disease with skin involvement","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-79387/","orphanet_url":"https://www.orpha.net/en/disease/detail/79387","names":{"fr":{"name":"Maladie métabolique avec atteinte cutanée"},"de":{"name":"Hautkrankheit, metabolische"},"es":{"name":"Enfermedad metabólica con afectación cutánea"},"it":{"name":"Malattia cutanea metabolica"},"nl":{"name":"Stofwisselingsstoornis met betrokkenheid van huid"},"pt":{"name":"Doença metabólica com envolvimento da pele"},"pl":{"name":"Choroba metaboliczna z zajęciem skóry"},"cs":{"name":"Metabolické onemocnění s postižením kůže"},"uk":{"name":"Метаболічні захворювання з ураженням шкіри"},"zh":{"name":"代谢疾病伴皮肤受累"},"tr":{"name":"Deri tutulumu ile seyreden metabolik hastalık"}},"xrefs":[{"source":"MONDO","code":"19301","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681475","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":68346,"name":"Rare genetic skin disease","classifications":[156]},{"orpha":89826,"name":"Rare skin disease","classifications":[187]}],"children":[{"orpha":37,"name":"Acrodermatitis enteropathica","type":"Disease"},{"orpha":56,"name":"Alkaptonuria","type":"Disease"},{"orpha":371200,"name":"Congenital disorder of glycosylation with skin involvement","type":"Category"},{"orpha":251523,"name":"Hyperzincemia and hypercalprotectinemia","type":"Disease"},{"orpha":79388,"name":"Mucopolysaccharidosis with skin involvement","type":"Category"},{"orpha":148,"name":"Multiple carboxylase deficiency","type":"Clinical group"},{"orpha":79217,"name":"Other metabolic disease with skin involvement","type":"Category"},{"orpha":738,"name":"Porphyria","type":"Clinical group"},{"orpha":742,"name":"Prolidase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}