{"code":"C35882","name":"Hereditary Elliptocytosis","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Hereditary Elliptocytosis","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Hereditary Elliptocytosis","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Hereditary Ovalocytosis","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Hereditary Elliptocytosis","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal dominant inherited hemolytic anemia that is characterized by the presence of elongated erythrocytes. It is most commonly associated with mutations in the SPTA1 and SPTB genes, which encode alpha- and beta-spectrin respectively.","code":"P325","type":"ALT_DEFINITION","source":"NICHD"},{"definition":"An inherited blood disorder in which a large number of red blood cells have an elliptical morphology.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"NICHD"},{"code":"P366","type":"Legacy Concept Name","value":"Hereditary_Elliptocytosis"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C3279659"}],"parents":[{"code":"C101218","name":"Hemolytic Anemia due to Membrane Defect"}],"roles":[{"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"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C54062","relatedName":"Hereditary Lesion"}]}