{"code":"C84692","name":"Epidermolysis Bullosa Simplex","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Epidermolysis Bullosa Simplex","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Epidermolysis Bullosa Simplex","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Epidermolysis Bullosa Simplex","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A genetic skin disorder caused by mutations in the KRT5 and KRT14 genes. It is characterized by the formation of blisters and increased fragility of the skin.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0079298"}],"parents":[{"code":"C67383","name":"Epidermolysis Bullosa"}],"roles":[{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C53302","relatedName":"Congenital Lesion"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C39570","relatedName":"Cutaneous Involvement"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12907","relatedName":"Integumentary System"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12470","relatedName":"Skin"}]}