{"orpha":90654,"name":"Stickler syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Stickler syndrome","url":"https://raremap.alftech.space/d/ORPHA-90654/","orphanet_url":"https://www.orpha.net/en/disease/detail/90654","names":{"fr":{"name":"Syndrome de Stickler type 2"},"de":{"name":"Stickler-Syndrom Typ 2"},"es":{"name":"Síndrome de Stickler tipo 2"},"it":{"name":"Sindrome di Stickler, tipo 2"},"nl":{"name":"Syndroom van Stickler type 2"},"pt":{"name":"Síndrome de Stickler tipo 2"},"pl":{"name":"Zespół Sticklera typu 2"},"cs":{"name":"Sticklerův syndrom, typ 2","synonyms":["STL2"]},"uk":{"name":"Синдром Стіклера, тип 2"},"zh":{"name":"Stickler综合征2型"},"tr":{"name":"Stickler sendromu tip 2"}},"xrefs":[{"source":"OMIM","code":"604841","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1652024415"},{"source":"MONDO","code":"0011493","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537493","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858084","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":98648,"name":"Musculoskeletal disease with cataract","classifications":[156,189]},{"orpha":828,"name":"Stickler syndrome","classifications":[147,156,189,199,200,209]},{"orpha":93422,"name":"Type 11 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"BMP4","name":"bone morphogenetic protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30568244[PMID]","hgnc":"1071","ensembl":"ENSG00000125378","omim":"112262","loci":["14q22.2"]},{"symbol":"COL11A1","name":"collagen type XI alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2186","ensembl":"ENSG00000060718","omim":"120280","loci":["1p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004327","label":"Abnormal vitreous humor morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000015","label":"Tympanic membrane hypermobility","frequency":"Frequent (79-30%)","criteria":null}]}}