{"orpha":2989,"name":"Familial pterygium of the conjunctiva","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2989/","orphanet_url":"https://www.orpha.net/en/disease/detail/2989","names":{"fr":{"name":"Ptérygium familial de la conjonctive","definition":"Le ptérygium familial de la conjonctive est un ptérygium rare qui se développe au début de l'âge adulte. Il se caractérise par un épaississement bulbeux en forme d'aile de la conjonctive dans la zone de la fissure interpalpébrale, et peut se résoudre par excision chirurgicale."},"de":{"name":"Pterygium conjunctivae, familiäre Form"},"es":{"name":"Pterigión de la conjuntiva familiar","definition":"Es un tipo de pterygium poco frecuente que se desarrolla al inicio de la edad adulta y que se caracteriza por un engrosamiento en forma alada de la conjuntiva bulbar, en el área de la fisura interpalpebral, y que puede ser curada mediante una escisión quirúrgica."},"it":{"name":"Pterigio della congiuntiva, forma familiare","definition":"La forma familiare di pterigio della congiuntiva è una condizione rara, a trasmissione autosomica dominante, che si sviluppa nella prima età adulta con ispessimento bulbare ad ala della congiuntiva nell'area della rima interpalpebrale e che può essere trattato con un'escissione chirurgica."},"nl":{"name":"Familiaal pterygium van conjunctiva","synonyms":["Familiaal pterygium van bindvlies"],"definition":"Een zeldzame vorm van pterygium die zich ontwikkelt in de vroege volwassenheid, en die gekarakteriseerd wordt door een vleugelvormige, bolle verdikking van het bindvlies in het gebied tussen de ooglidspleten die kan genezen worden door chirurgische excisie."},"pt":{"name":"Pterígio da conjuntiva familiar"},"pl":{"name":"Postać rodzinna skrzydlika spojówki"},"cs":{"name":"Pterygium spojivky, familiární forma"},"uk":{"name":"Сімейний птеригій конюнктиви","definition":"A rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision."}},"xrefs":[{"source":"OMIM","code":"178000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H11.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A61.1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008337","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274782","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4569","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98610,"name":"Rare disorder with conjunctival involvement as a major feature","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":31.0,"area":"Worldwide","status":"Validated","source":"13749128[PMID]_14129265[PMID]_3661143[PMID]_2359104[PMID]_11588421[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"13749128[PMID]_14129265[PMID]_3661143[PMID]_2359104[PMID]_11588421[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Frequent (79-30%)","criteria":null}]}}