{"orpha":271870,"name":"Rare genetic systemic or rheumatologic disease","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-271870/","orphanet_url":"https://www.orpha.net/en/disease/detail/271870","names":{"fr":{"name":"Maladie systémique ou rhumatologique rare d'origine génétique"},"de":{"name":"Seltene genetisch bedingte systemische oder rheumatologische Krankheit"},"es":{"name":"Enfermedades sistémicas genéticas raras"},"it":{"name":"Malattia sistemica genetica rara"},"nl":{"name":"Zeldzame genetische systemische of reumatologische ziekte"},"pt":{"name":"Doença genética sistémica"},"pl":{"name":"Rzadka choroba układowa lub reumatologiczna uwarunkowana genetycznie"},"cs":{"name":"Vzácná geneticky podmíněná systémová nebo revmatologická onemocnění"},"uk":{"name":"Рідкісне генетично обумовлене системне або ревматологічне захворювання"},"zh":{"name":"罕见遗传性全身或风湿疾病"},"tr":{"name":"Nadir genetik sistemik veya romatolojik hastalık"}},"xrefs":[{"source":"UMLS","code":"C5680758","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":98053,"name":"Rare genetic disease","classifications":[156]}],"children":[{"orpha":444092,"name":"Autoimmune interstitial lung disease-arthritis syndrome","type":"Disease"},{"orpha":2848,"name":"Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome","type":"Disease"},{"orpha":658951,"name":"Early-onset immune dysregulation due to DOCK11 complete deficiency","type":"Disease"},{"orpha":2295,"name":"Familial articular hypermobility syndrome","type":"Disease"},{"orpha":1416,"name":"Familial calcium pyrophosphate deposition","type":"Disease"},{"orpha":444116,"name":"Hereditary amyloidosis","type":"Category"},{"orpha":722,"name":"Hypoplasminogenemia","type":"Disease"},{"orpha":529977,"name":"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome","type":"Disease"},{"orpha":329967,"name":"Intermittent hydrarthrosis","type":"Disease"},{"orpha":521450,"name":"LAMA5-related multisystemic syndrome","type":"Disease"},{"orpha":679,"name":"Malignant atrophic papulosis","type":"Clinical subtype"},{"orpha":300382,"name":"Progeroid and marfanoid aspect-lipodystrophy syndrome","type":"Disease"},{"orpha":619238,"name":"Rare hereditary autoinflammatory disease","type":"Category"},{"orpha":619249,"name":"Rare hereditary connective tissue disease","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}