{"code":"C3820","name":"Cyclic Neutropenia","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Cyclic Neutropenia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"cyclic neutropenia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000650563"},{"name":"periodic neutropenia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000650564"},{"name":"Cyclic Agranulocytosis","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Cyclic Hematopoiesis","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Cyclic Neutropenia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Dysplasia, Myelocytic Periodic","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Periodic Neutropenia","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"CH","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"CN","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Cyclic Hematopoiesis","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Cyclic Neutropenia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Cyclic Neutropenia","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A chronic condition that affects neutrophils (a type of white blood cell). In cyclic neutropenia, the number of neutrophils in the blood goes in cycles from normal to low and back to normal again. Symptoms include fever, inflamed mucous membranes in the mouth, and infections.","code":"P325","type":"ALT_DEFINITION","source":"NCI-GLOSS"},{"definition":"A hematologic disorder caused by a mutation in the ELANE (ELA2) gene. Clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.","code":"P325","type":"ALT_DEFINITION","source":"NICHD"},{"definition":"A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P322","type":"Contributing_Source","value":"NICHD"},{"code":"P366","type":"Legacy Concept Name","value":"Cyclic_Neutropenia"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0221023"}],"parents":[{"code":"C171089","name":"Functional Disorder of Polymorphonuclear Neutrophils"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C104195","relatedName":"ELANE Gene"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C41165","relatedName":"Hematopoietic and Lymphatic System"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C41165","relatedName":"Hematopoietic and Lymphatic System"},{"code":"R104","type":"Disease_Has_Normal_Cell_Origin","relatedCode":"C32725","relatedName":"Hematopoietic and Lymphoid Cell"},{"code":"R103","type":"Disease_Has_Normal_Tissue_Origin","relatedCode":"C41168","relatedName":"Hematopoietic and Lymphoid Tissue"}]}