{"orpha":717348,"name":"Rare genetic disorder with progressive retinal vasculopathy as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Rare genetic syndromic progressive retinal vasculopathy"],"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-717348/","orphanet_url":"https://www.orpha.net/en/disease/detail/717348","names":{"fr":{"name":"Maladie génétique rare avec vasculopathie rétinienne progressive comme manifestation majeure","synonyms":["Maladie génétique rare avec vasculopathie rétinienne progressive syndromique"]},"de":{"name":"Seltene genetische Störung mit progressiver Vaskulopathie als Hauptmerkmal","synonyms":["Seltenes genetisches Syndrom mit fortschreitender Netzhautvaskulopathie"]},"es":{"name":"Trastorno genético raro con afectación de vasculopatía progresiva como característica principal","synonyms":["Vasculopatía retiniana progresiva sindrómica genética rara"]},"it":{"name":"Malattia genetica rara con vasculopatia progressiva come caratteristica principale","synonyms":["Vasculopatia retinica sindromica genetica rara progressiva"]},"nl":{"name":"Zeldzame genetische aandoening met progressieve vasculopathie als hoofdkenmerk","synonyms":["Zeldzame genetische syndromale progressieve retinale vasculopathie"]},"pt":{"name":"Rare genetic disorder with progressive vasculopathy disorder as a major feature"},"pl":{"name":"Rzadkie genetycznie uwarunkowane zaburzenie z postępującą waskulopatią jako dominującą cechą","synonyms":["Rare genetic syndromic progressive retinal vasculopathy"]},"cs":{"name":"Rare genetic disorder with progressive retinal vasculopathy as a major feature","synonyms":["Rare genetic syndromic progressive retinal vasculopathy"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717342,"name":"Rare genetic progressive retinal vasculopathy","classifications":[156]}],"children":[{"orpha":136,"name":"CADASIL","type":"Disease"},{"orpha":190,"name":"Coats disease","type":"Disease"},{"orpha":313838,"name":"Coats plus syndrome","type":"Disease"},{"orpha":464,"name":"Incontinentia pigmenti","type":"Malformation syndrome"},{"orpha":649,"name":"Norrie disease","type":"Malformation syndrome"},{"orpha":2788,"name":"Osteoporosis-pseudoglioma syndrome","type":"Disease"},{"orpha":247691,"name":"Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations","type":"Disease"},{"orpha":3088,"name":"Revesz syndrome","type":"Malformation syndrome"},{"orpha":2715,"name":"Severe oculo-renal-cerebellar syndrome","type":"Malformation syndrome"},{"orpha":506307,"name":"Stromme syndrome","type":"Malformation syndrome"},{"orpha":3205,"name":"Sturge-Weber syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}