{"code":"C115207","name":"Congenital Amegakaryocytic Thrombocytopenia","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Congenital Amegakaryocytic Thrombocytopenia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"CCPS"},{"name":"Congenital Amegakaryocytic Thrombocytopenia","termType":"DN","type":"FULL_SYN","typeCode":"P90","source":"CTRP"},{"name":"Congenital Amegakaryocytic Thrombocytopenia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Congenital Amegakaryocytic Thrombocytopenia","type":"Display_Name","typeCode":"P107"},{"name":"Congenital Amegakaryocytic Thrombocytopenia","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A rare, autosomal recessive inherited disorder caused by mutation in the c-Mpl gene.  It is characterized by thrombocytopenia and absence of megakaryocytes.  It presents with bleeding in the first month of life.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"CCPS"},{"code":"P322","type":"Contributing_Source","value":"CTRP"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C1327915"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C18411","relatedName":"MPL Gene"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}