{"code":"C84795","name":"Meesmann Corneal Dystrophy","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Juvenile Epithelial of Meesmann Corneal Dystrophy","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Meesmann Corneal Dystrophy","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Meesmann Corneal Dystrophy","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal dominant inherited corneal disorder caused by mutations in the KRT3 and KRT12 genes. It is characterized by the formation of multiple tiny cysts in the epithelial layer of the cornea. The cysts may rupture, causing pain, redness and light sensitivity. Vision usually is not affected.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0339277"}],"parents":[{"code":"C34512","name":"Hereditary Corneal Dystrophy"},{"code":"C53543","name":"Rare Non-Neoplastic Disorder"}],"roles":[{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12342","relatedName":"Cornea"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12342","relatedName":"Cornea"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12401","relatedName":"Eye"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12401","relatedName":"Eye"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C54062","relatedName":"Hereditary Lesion"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C190256","relatedName":"KRT12 Gene"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C190213","relatedName":"KRT3 Gene"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}