{"code":"C7754","name":"Juvenile Polyposis Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Juvenile Polyposis Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"CCPS"},{"name":"Juvenile Multiple Polyps Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Juvenile Polyposis","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Juvenile Polyposis Coli","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Juvenile Polyposis Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Juvenile Polyposis Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal dominant hereditary neoplastic syndrome. Mutations in the SMAD4 or BMPR1A genes have been identified in some patients. It is characterized by the presence of multiple juvenile polyps in the gastrointestinal tract.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"CCPS"},{"code":"P366","type":"Legacy Concept Name","value":"Juvenile_Polyposis_Syndrome"},{"type":"Logical_Definition","value":"true"},{"code":"P363","type":"Neoplastic_Status","value":"Benign"},{"code":"P106","type":"Semantic_Type","value":"Neoplastic Process"},{"code":"P207","type":"UMLS_CUI","value":"C0345893"}],"parents":[{"code":"C3266","name":"Hereditary Neoplastic Syndrome","defining":true}],"roles":[{"code":"R89","type":"Disease_May_Have_Molecular_Abnormality","relatedCode":"C96522","relatedName":"BMPR1A Gene Mutation"},{"code":"R89","type":"Disease_May_Have_Molecular_Abnormality","relatedCode":"C96522","relatedName":"BMPR1A Gene Mutation","group":"Molecular Abnormality"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C21366","relatedName":"BMPR1A Gene"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C21366","relatedName":"BMPR1A Gene","group":"Gene"},{"code":"R116","type":"Disease_May_Have_Associated_Disease","relatedCode":"C2955","relatedName":"Colorectal Carcinoma"},{"code":"R116","type":"Disease_May_Have_Associated_Disease","relatedCode":"C2955","relatedName":"Colorectal Carcinoma","group":"Disease, Disorder or Finding"},{"code":"R116","type":"Disease_May_Have_Associated_Disease","relatedCode":"C3850","relatedName":"Exocrine Pancreas Carcinoma"},{"code":"R116","type":"Disease_May_Have_Associated_Disease","relatedCode":"C3850","relatedName":"Exocrine Pancreas Carcinoma","group":"Disease, Disorder or Finding"},{"code":"R116","type":"Disease_May_Have_Associated_Disease","relatedCode":"C4911","relatedName":"Gastric Carcinoma"},{"code":"R116","type":"Disease_May_Have_Associated_Disease","relatedCode":"C4911","relatedName":"Gastric Carcinoma","group":"Disease, Disorder or Finding"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C54062","relatedName":"Hereditary Lesion"},{"code":"R126","type":"Disease_Has_Associated_Disease","relatedCode":"C3826","relatedName":"Juvenile Polyp"},{"code":"R126","type":"Disease_Has_Associated_Disease","relatedCode":"C3826","relatedName":"Juvenile Polyp","group":"Disease, Disorder or Finding"},{"code":"R89","type":"Disease_May_Have_Molecular_Abnormality","relatedCode":"C36693","relatedName":"SMAD4 Gene Inactivation"},{"code":"R89","type":"Disease_May_Have_Molecular_Abnormality","relatedCode":"C36693","relatedName":"SMAD4 Gene Inactivation","group":"Molecular Abnormality"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C18258","relatedName":"SMAD4 Gene"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C18258","relatedName":"SMAD4 Gene","group":"Gene"},{"code":"R116","type":"Disease_May_Have_Associated_Disease","relatedCode":"C7724","relatedName":"Small Intestinal Carcinoma"},{"code":"R116","type":"Disease_May_Have_Associated_Disease","relatedCode":"C7724","relatedName":"Small Intestinal Carcinoma","group":"Disease, Disorder or Finding"}]}