{"orpha":91490,"name":"Isolated congenital sclerocornea","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare corneal disorder characterized by non-inflammatory, non-progressive, bilateral ingrowth of vascularized, opaque scleral tissue into the peripheral cornea, obliterating the corneoscleral limbus and scleral sulcus. The condition is not associated with other ocular abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91490/","orphanet_url":"https://www.orpha.net/en/disease/detail/91490","names":{"fr":{"name":"Sclérocornée isolée congénitale","definition":"Maladie cornéenne rare caractérisée par une croissance bilatérale non inflammatoire et non progressive de tissu scléral opaque et vascularisé dans la cornée périphérique, recouvrant le limbe cornéoscléral et le sillon scléral. La maladie n'est pas associée à d'autres anomalies oculaires."},"de":{"name":"Sklerokornea, isolierte kongenitale","definition":"Eine seltene Hornhauterkrankung, die durch ein nicht-entzündliches, nicht-progredientes, bilaterales Einwachsen von vaskularisiertem, undurchsichtigem Skleragewebe in die periphere Hornhaut gekennzeichnet ist, wodurch der korneosklerale Limbus und der Skleralsulkus verödet werden. Die Erkrankung ist nicht mit anderen Augenanomalien assoziiert."},"es":{"name":"Esclerocórnea aislada congénita","definition":"Es un trastorno corneal poco frecuente caracterizado por un crecimiento bilateral, no progresivo y no inflamatorio de tejido escleral opaco vascularizado en la córnea periférica, obliterando el limbo esclerocorneal y el surco escleral. El trastorno no está asociado a otras anomalías oculares."},"it":{"name":"Sclerocornea congenita isolata","definition":"Si tratta di una malattia rara della cornea, caratterizzata dalla proliferazione bilaterale non infiammatoria e non progressiva di tessuto sclerale opaco e vascolarizzato nella cornea periferica, che oblitera il limbo corneo-sclerale e il solco sclerale. Non sono presenti altri anomalie oculari."},"nl":{"name":"Geïsoleerde congenitale sclerocornea","definition":"Een zeldzame aandoening van cornea, gekarakteriseerd door niet-inflammatoire, niet-progressieve, bilaterale ingroei van gevasculariseerd, ondoorzichtig scleraweefsel in perifeer hoornvlies, wat leidt tot obliteratie van corneosclerale limbus en sulcus sclerae. De aandoening is niet geassocieerd met andere ooganomalieën."},"pt":{"name":"Esclerocórnea congénita isolada"},"pl":{"name":"Izolowana wrodzona twardówko-rogówka"},"cs":{"name":"Izolovaná vrozená sklerokornea"},"uk":{"name":"Ізольована вроджена склерокорнеа","definition":"A rare corneal disorder characterized by non-inflammatory, non-progressive, bilateral ingrowth of vascularized, opaque scleral tissue into the peripheral cornea, obliterating the corneoscleral limbus and scleral sulcus. The condition is not associated with other ocular abnormalities."},"zh":{"name":"特发性先天性巩膜化角膜"},"tr":{"name":"İzole doğumsal sklerokornea"}},"xrefs":[{"source":"OMIM","code":"181700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA11.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"995798428"},{"source":"MONDO","code":"0019629","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19629","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344533","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98635,"name":"Corneodysgenesis","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"GJA8","name":"gap junction protein alpha 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28455998[PMID]","hgnc":"4281","ensembl":"ENSG00000121634","omim":"600897","loci":["1q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}