{"orpha":622720,"name":"Genetic autoinflammatory syndrome 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-622720/","orphanet_url":"https://www.orpha.net/en/disease/detail/622720","names":{"fr":{"name":"Syndrome auto-inflammatoire génétique avec atteinte cutanée"},"de":{"name":"Genetisch bedingtes Autoinflammatorisches Syndrom mit Hautbeteiligung,"},"es":{"name":"Síndrome autoinflamatorio genético con afectación cutánea"},"it":{"name":"Sindrome genetica autoinfiammatoria con interessamento cutaneo"},"nl":{"name":"Genetisch auto-inflammatoir syndroom met betrokkenheid van huid"},"pt":{"name":"Síndrome autoinflamatório genético com envolvimento da pele"},"pl":{"name":"Genetyczny zespół autozapalny z zajęciem skóry"},"cs":{"name":"Genetický autoinflamatorní syndrom s postižením kůže"},"uk":{"name":"Генетично обумовлений аутозапальний синдром з ураженням шкіри"}},"xrefs":[{"source":"UMLS","code":"C5681827","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":68346,"name":"Rare genetic skin disease","classifications":[156]}],"children":[{"orpha":90340,"name":"Blau syndrome","type":"Disease"},{"orpha":404546,"name":"DITRA","type":"Disease"},{"orpha":674762,"name":"Early-onset autoinflammatory syndrome due to A20 haploinsufficiency","type":"Disease"},{"orpha":617919,"name":"F12-associated cold autoinflammatory syndrome","type":"Disease"},{"orpha":652510,"name":"Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa","type":"Clinical group"},{"orpha":251523,"name":"Hyperzincemia and hypercalprotectinemia","type":"Disease"},{"orpha":77297,"name":"Majeed syndrome","type":"Disease"},{"orpha":309025,"name":"Mevalonate kinase deficiency","type":"Disease"},{"orpha":576349,"name":"NLRC4-related familial cold autoinflammatory syndrome","type":"Disease"},{"orpha":247868,"name":"NLRP12-associated hereditary periodic fever syndrome","type":"Disease"},{"orpha":208650,"name":"NLRP3-associated autoinflammatory disease","type":"Clinical group"},{"orpha":619363,"name":"NOCARH syndrome","type":"Disease"},{"orpha":294023,"name":"Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome","type":"Disease"},{"orpha":436166,"name":"Periodic fever-infantile enterocolitis-autoinflammatory syndrome","type":"Disease"},{"orpha":324977,"name":"Proteasome-associated autoinflammatory syndrome","type":"Disease"},{"orpha":619367,"name":"SAMD9L-associated autoinflammatory syndrome","type":"Disease"},{"orpha":425120,"name":"STING-associated vasculopathy with onset in infancy","type":"Disease"},{"orpha":210115,"name":"Sterile multifocal osteomyelitis with periostitis and pustulosis","type":"Disease"},{"orpha":3243,"name":"Sweet syndrome","type":"Disease"},{"orpha":32960,"name":"Tumor necrosis factor receptor 1 associated periodic syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}