{"orpha":98578,"name":"Rare disorder with ptosis","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-98578/","orphanet_url":"https://www.orpha.net/en/disease/detail/98578","names":{"fr":{"name":"Maladie rare avec ptosis"},"de":{"name":"Seltene Störung mit Ptosis"},"es":{"name":"Enfermedad rara con ptosis"},"it":{"name":"Ptosi"},"nl":{"name":"Zeldzame stoornis met ptose"},"pt":{"name":"Ptose"},"pl":{"name":"Rzadkie zaburzenie z ptozą"},"cs":{"name":"Ptózy"},"uk":{"name":"Рідкісне захворювання з птозом"},"zh":{"name":"罕见眼睑下垂"},"tr":{"name":"Pitoz ile seyreden nadir bozukluk"}},"xrefs":[{"source":"MeSH","code":"D001763","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681651","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98567,"name":"Rare eyelid malposition disorder","classifications":[147,189]},{"orpha":522528,"name":"Rare genetic eyelid malposition disorder","classifications":[156]}],"children":[{"orpha":2980,"name":"Acrootoocular syndrome","type":"Malformation syndrome"},{"orpha":1352,"name":"Atrioventricular defect-blepharophimosis-radial and anal defect syndrome","type":"Malformation syndrome"},{"orpha":2995,"name":"Baraitser-Winter cerebrofrontofacial syndrome","type":"Malformation syndrome"},{"orpha":293642,"name":"Blepharophimosis-intellectual disability syndrome","type":"Clinical group"},{"orpha":126,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome","type":"Malformation syndrome"},{"orpha":572333,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome plus","type":"Malformation syndrome"},{"orpha":2057,"name":"Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome","type":"Malformation syndrome"},{"orpha":127,"name":"Borjeson-Forssman-Lehmann syndrome","type":"Malformation syndrome"},{"orpha":1323,"name":"Camptodactyly-joint contractures-facial skeletal defects syndrome","type":"Malformation syndrome"},{"orpha":46627,"name":"Char syndrome","type":"Malformation syndrome"},{"orpha":91413,"name":"Congenital Horner syndrome","type":"Disease"},{"orpha":45358,"name":"Congenital fibrosis of extraocular muscles","type":"Disease"},{"orpha":590,"name":"Congenital myasthenic syndrome","type":"Disease"},{"orpha":91411,"name":"Congenital ptosis","type":"Disease"},{"orpha":199,"name":"Cornelia de Lange syndrome","type":"Malformation syndrome"},{"orpha":230,"name":"Dopamine beta-hydroxylase deficiency","type":"Disease"},{"orpha":235,"name":"Dubowitz syndrome","type":"Malformation syndrome"},{"orpha":66629,"name":"Goldberg-Shprintzen megacolon syndrome","type":"Malformation syndrome"},{"orpha":2308,"name":"Jacobsen syndrome","type":"Malformation syndrome"},{"orpha":91412,"name":"Marcus-Gunn syndrome","type":"Disease"},{"orpha":663,"name":"Mitochondrial DNA-related progressive external ophthalmoplegia","type":"Disease"},{"orpha":298,"name":"Mitochondrial neurogastrointestinal encephalomyopathy","type":"Disease"},{"orpha":580,"name":"Mucopolysaccharidosis type 2","type":"Disease"},{"orpha":648,"name":"Noonan syndrome","type":"Malformation syndrome"},{"orpha":1876,"name":"Oculogastrointestinal muscular dystrophy","type":"Disease"},{"orpha":270,"name":"Oculopharyngeal muscular dystrophy","type":"Disease"},{"orpha":98897,"name":"Oculopharyngodistal myopathy","type":"Disease"},{"orpha":606,"name":"Proximal myotonic myopathy","type":"Disease"},{"orpha":2999,"name":"Ptosis-strabismus-ectopic pupils syndrome","type":"Malformation syndrome"},{"orpha":228396,"name":"Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome","type":"Malformation syndrome"},{"orpha":2997,"name":"Ptosis-vocal cord paralysis syndrome","type":"Malformation syndrome"},{"orpha":794,"name":"Saethre-Chotzen syndrome","type":"Malformation syndrome"},{"orpha":818,"name":"Smith-Lemli-Opitz syndrome","type":"Malformation syndrome"},{"orpha":273,"name":"Steinert myotonic dystrophy","type":"Disease"},{"orpha":861,"name":"Treacher-Collins syndrome","type":"Malformation syndrome"},{"orpha":502430,"name":"Weiss-Kruszka Syndrome","type":"Malformation syndrome"},{"orpha":596,"name":"X-linked centronuclear myopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}