{"orpha":716427,"name":"Rare disorder with progressive predominantly macular disorder as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Rare syndromic progressive predominantly macular 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-716427/","orphanet_url":"https://www.orpha.net/en/disease/detail/716427","names":{"fr":{"name":"Maladie rare avec atteinte progressive prédominante de la macula comme manifestation majeure","synonyms":["Maladie rare syndromique avec atteinte progressive prédominante de la macula"]},"de":{"name":"Seltene Störung mit progredienter Makulopathie als Hauptmerkmal"},"es":{"name":"Trastorno raro con afectación predominantemente macular progresiva como característica principal","synonyms":["Trastorno raro predominantemente macular progresivo sindrómico"]},"it":{"name":"Malattia rara con predominate maculopatia progressiva come caratteristica principale","synonyms":["Malattia rara sindromica progressiva a predominanza maculare"]},"nl":{"name":"Zeldzame aandoening met progressieve overwegend maculaire aandoening als een hoofdkenmerk","synonyms":["Zeldzame syndromale progressieve overwegend maculaire aandoening","Zeldzame syndromale progressieve aandoening van voornamelijk macula","Zeldzame syndromale progressieve aandoening van voornamelijk gele vlek"]},"pt":{"name":"Rare disorder with progressive predominantly macular disorder as a major feature"},"pl":{"name":"Rare disorder with progressive predominantly macular disorder as a major feature","synonyms":["Rare syndromic progressive predominantly macular disorder"]},"cs":{"name":"Rare disorder with progressive predominantly macular disorder as a major feature","synonyms":["Rare syndromic progressive predominantly macular disorder"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717333,"name":"Rare genetic progressive predominantly macular disorder","classifications":[156]},{"orpha":716416,"name":"Rare progressive predominantly macular disorder","classifications":[189]}],"children":[{"orpha":63,"name":"Alport syndrome","type":"Disease"},{"orpha":1897,"name":"EEM syndrome","type":"Malformation syndrome"},{"orpha":351,"name":"Galactosialidosis","type":"Disease"},{"orpha":1573,"name":"Hypotrichosis with juvenile macular degeneration","type":"Malformation syndrome"},{"orpha":77292,"name":"Infantile neurovisceral acid sphingomyelinase deficiency","type":"Disease"},{"orpha":100996,"name":"Kjellin syndrome","type":"Disease"},{"orpha":1571,"name":"Knobloch syndrome","type":"Malformation syndrome"},{"orpha":91494,"name":"Macular coloboma-cleft palate-hallux valgus syndrome","type":"Malformation syndrome"},{"orpha":758,"name":"Pseudoxanthoma elasticum","type":"Disease"},{"orpha":816,"name":"Sjögren-Larsson syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}