{"orpha":716342,"name":"Rare disorder with progressive predominantly chorioretinal disorder as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Rare syndromic progressive predominantly chorioretinal disorder"],"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-716342/","orphanet_url":"https://www.orpha.net/en/disease/detail/716342","names":{"fr":{"name":"Maladie rare avec atteinte progressive prédominante de la choroïde et de la rétine comme manifestation majeure","synonyms":["Maladie rare avec atteinte progressive prédominante de la rétine et de la choroïde syndromique"]},"de":{"name":"Seltene Störung mit progredienter chorioretinaler Störung als Hauptmerkmal"},"es":{"name":"Trastorno raro con afectación predominantemente coriorretiniana progresiva como característica principal","synonyms":["Trastorno raro predominantemente coriorretiniano progresivo sindrómico"]},"it":{"name":"Malattia rara con anomalia progressiva a predominanza corioretinica come caratteristica principale","synonyms":["Malattia rara sindromica progressiva a predominanza corioretinica"]},"nl":{"name":"Zeldzame aandoening met progressieve aandoening van voornamelijk choroidea en/of retina als een hoofdkenmerk","synonyms":["Zeldzame aandoening met progressieve overwegend chorioretinale aandoening als een hoofdkenmerk","Zeldzame syndromale progressieve aandoening van voornamelijk choroidea en/of retina","Zeldzame aandoening met progressieve aandoening van voornamelijk vaatvlies en/of netvlies als een hoofdkenmerk","Zeldzame syndromale progressieve aandoening van voornamelijk vaatvlies en/of netvlies","Zeldzame syndromale progressieve overwegend chorioretinale aandoening"]},"pt":{"name":"Rare disorder with progressive predominantly chorioretinal disorder as a major feature"},"pl":{"name":"Rzadkie zaburzenie z postępującą chorobą dotyczącą głównie naczyniówki i siatkówki jako dominującą cechąowo-siatkówkową chorobą jako główną cechą","synonyms":["Rare syndromic progressive predominantly chorioretinal disorder"]},"cs":{"name":"Rare disorder with progressive predominantly chorioretinal disorder as a major feature","synonyms":["Rare syndromic progressive predominantly chorioretinal disorder"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717314,"name":"Rare genetic progressive predominantly chorioretinal disorder","classifications":[156]},{"orpha":716304,"name":"Rare progressive predominantly chorioretinal disorder","classifications":[189]}],"children":[{"orpha":250977,"name":"AICA-ribosiduria","type":"Disease"},{"orpha":1180,"name":"Ataxia-hypogonadism-choroidal dystrophy syndrome","type":"Disease"},{"orpha":2518,"name":"Autosomal recessive chorioretinopathy-microcephaly syndrome","type":"Malformation syndrome"},{"orpha":1415,"name":"Hardikar syndrome","type":"Malformation syndrome"},{"orpha":2235,"name":"Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome","type":"Disease"},{"orpha":2377,"name":"Laurence-Moon syndrome","type":"Malformation syndrome"},{"orpha":2526,"name":"Microcephaly-chorioretinopathy-lymphedema syndrome","type":"Malformation syndrome"},{"orpha":3363,"name":"Trichomegaly-retina pigmentary degeneration-dwarfism syndrome","type":"Malformation syndrome"},{"orpha":1435,"name":"Xq21 microdeletion syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}