{"orpha":90653,"name":"Stickler syndrome type 1","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-90653/","orphanet_url":"https://www.orpha.net/en/disease/detail/90653","names":{"fr":{"name":"Syndrome de Stickler type 1"},"de":{"name":"Stickler-Syndrom Typ 1"},"es":{"name":"Síndrome de Stickler tipo 1"},"it":{"name":"Sindrome di Stickler, tipo 1"},"nl":{"name":"Syndroom van Stickler type 1"},"pt":{"name":"Síndrome de Stickler tipo 1"},"pl":{"name":"Zespół Sticklera typu 1"},"cs":{"name":"Sticklerův syndrom, typ 1","synonyms":["STL1"]},"uk":{"name":"Синдром Стіклера, тип 1"},"zh":{"name":"Stickler综合征1型"},"tr":{"name":"Stickler sendromu tip 1"}},"xrefs":[{"source":"OMIM","code":"108300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"609508","qualifier":"BTNT","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":"203625278"},{"source":"MONDO","code":"0007160","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537492","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2020284","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":93421,"name":"Type 2 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9800905[PMID]_21671392[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"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:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","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:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100734","label":"Abnormality of vertebral epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000015","label":"Tympanic membrane hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}