{"orpha":519296,"name":"Rare disorder with pigmented sclera","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-519296/","orphanet_url":"https://www.orpha.net/en/disease/detail/519296","names":{"fr":{"name":"Maladie rare avec sclérotique bleue"},"de":{"name":"Seltene Krankheit mit pigmentierter Sklera"},"es":{"name":"Trastorno raro con esclerótica pigmentada"},"it":{"name":"Malattia rara con sclera pigmentata"},"nl":{"name":"Zeldzame stoornis met gepigmenteerde sclera"},"pt":{"name":"Doença rara com pigmentação da esclera"},"pl":{"name":"Rzadka choroba z pigmentacją twardówki"},"cs":{"name":"Vzácná porucha s pigmentovanou sklérou"},"uk":{"name":"Рідкісне захворювання з пігментованою склерою"},"zh":{"name":"罕见巩膜色素沉着症"},"tr":{"name":"Pigmentli sklera ile seyreden nadir bozukluk"}},"xrefs":[{"source":"UMLS","code":"C5681370","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522504,"name":"Rare genetic disorder of the visual organs","classifications":[156]},{"orpha":519298,"name":"Rare scleral disorder","classifications":[189]}],"children":[{"orpha":56,"name":"Alkaptonuria","type":"Disease"},{"orpha":52047,"name":"Braddock syndrome","type":"Malformation syndrome"},{"orpha":175,"name":"Cartilage-hair hypoplasia","type":"Disease"},{"orpha":2050,"name":"Cole-Carpenter syndrome","type":"Malformation syndrome"},{"orpha":2772,"name":"Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome","type":"Malformation syndrome"},{"orpha":1865,"name":"Dyssegmental dysplasia, Silverman-Handmaker type","type":"Disease"},{"orpha":2097,"name":"Grant syndrome","type":"Malformation syndrome"},{"orpha":2186,"name":"Hydrocephalus-blue sclerae-nephropathy syndrome","type":"Malformation syndrome"},{"orpha":1900,"name":"Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency","type":"Clinical subtype"},{"orpha":2484,"name":"Melnick-Needles syndrome","type":"Malformation syndrome"},{"orpha":216796,"name":"Osteogenesis imperfecta type 1","type":"Clinical subtype"},{"orpha":216804,"name":"Osteogenesis imperfecta type 2","type":"Clinical subtype"},{"orpha":216812,"name":"Osteogenesis imperfecta type 3","type":"Clinical subtype"},{"orpha":216820,"name":"Osteogenesis imperfecta type 4","type":"Clinical subtype"},{"orpha":157965,"name":"SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome","type":"Clinical subtype"},{"orpha":66633,"name":"Sensorineural hearing loss-early graying-essential tremor syndrome","type":"Disease"},{"orpha":813,"name":"Silver-Russell syndrome","type":"Disease"},{"orpha":2475,"name":"White forelock with malformations","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}