{"orpha":2085,"name":"Glaucoma-sleep apnea syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2085/","orphanet_url":"https://www.orpha.net/en/disease/detail/2085","names":{"fr":{"name":"Syndrome de glaucome-apnée du sommeil","definition":"Syndrome de glaucome-apnée du sommeil est caractérisé par une apnée du sommeil associée à un glaucome. Il a été décrit chez cinq membres d'une même famille (la mère et quatre de ses enfants)."},"de":{"name":"Glaukom-Schlafapnoe-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch das Zusammentreffen von Schlafapnoe und Glaukom. Es wurde in 1 Familie bei 5 Angehörigen (Mutter und vier ihrer Kinder) beschrieben."},"es":{"name":"Síndrome de glaucoma-apnea del sueño","definition":"Es un síndrome caracterizado por apnea del sueño asociada a glaucoma. Se ha descrito en cinco miembros de una familia (la madre y cuatro de sus hijos)."},"it":{"name":"Sindrome glaucoma-apnea"},"nl":{"name":"Glaucoom - slaapapneu-syndroom","definition":"Een syndroom, gekenmerkt door slaapapneu geassocieerd met glaucoom. Glaucoom - slaapapneu-syndroom werd beschreven bij vijf leden van één familie (een moeder en vier van haar kinderen)."},"pt":{"name":"Síndrome de glaucoma-apneia do sono"},"pl":{"name":"Jaskra - bezdech senny"},"cs":{"name":"Syndrom zahrnující glaukom a spánkovou apnoe"},"uk":{"name":"Синдромї апное сну та глаукоми","definition":"Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children)."},"zh":{"name":"青光眼-睡眠呼吸暂停综合征"},"tr":{"name":"Glokom-uyku apnesi sendromu"}},"xrefs":[{"source":"OMIM","code":"137763","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H40.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C6Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0007666","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304308","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2483","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":68354,"name":"Rare sleep disorder","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"7164003[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7164003[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Very frequent (99-80%)","criteria":null}]}}