{"orpha":522542,"name":"Rare genetic disorder with conjunctival involvement as a major feature","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-522542/","orphanet_url":"https://www.orpha.net/en/disease/detail/522542","names":{"fr":{"name":"Maladie génétique rare avec atteinte conjonctivale comme manifestation majeure"},"de":{"name":"Seltene genetische Krankheit mit Beteiligung der Konjunktiva als Hauptmerkmal"},"es":{"name":"Trastorno genético raro con afectación conjuntival como característica principal"},"it":{"name":"Malattia genetica rara con coinvolgimento congiuntivale quale segno maggiore"},"nl":{"name":"Zeldzame genetische aandoening met betrokkenheid van conjunctiva als hoofdkenmerk"},"pt":{"name":"Doença genética rara com envolvimento da conjuntiva como característica principal"},"pl":{"name":"Rzadka choroba uwarunkowana genetycznie, w której obrazie dominują objawy ze strony spojówek"},"cs":{"name":"Vzácná genetická porucha s postižením spojivek jako hlavním příznakem"},"uk":{"name":"Рідкісне генетично обумовлене захворювання з ураженням конюнктиви як основною ознакою"},"zh":{"name":"以结膜受累为主要特征的罕见遗传性疾病"},"tr":{"name":"Esas klinik özelliği konjonktiva tutulumu olan nadir genetik bozukluk"}},"xrefs":[{"source":"UMLS","code":"C5681417","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522538,"name":"Rare genetic disorder of the anterior segment of the eye","classifications":[156]}],"children":[{"orpha":722,"name":"Hypoplasminogenemia","type":"Disease"},{"orpha":2407,"name":"Laryngo-onycho-cutaneous syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}