{"code":"C18590","name":"PMS1 Gene","terminology":"ncit","version":"26.09d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"PMS1 Gene","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"caDSR"},{"name":"PMS1 Gene","termType":"DN","type":"FULL_SYN","typeCode":"P90","source":"CTRP"},{"name":"MLH2","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"GDC"},{"name":"PMS1","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"GDC"},{"name":"PMS1","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"HGNC","code":"HGNC:9121"},{"name":"MLH2","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"PMS1","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"PMS1 Gene","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"PMS1 Homolog 1, Mismatch Repair System Component Gene","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"PMS1 Gene","type":"Display_Name","typeCode":"P107"},{"name":"PMS1 Gene","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"This gene is involved in mismatch repair and mutations in the gene result in hereditary non-polyposis colon cancer 3.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"CTRP"},{"code":"P322","type":"Contributing_Source","value":"GDC"},{"code":"P369","type":"HGNC_ID","value":"HGNC:9121"},{"code":"P366","type":"Legacy Concept Name","value":"PMS1_Gene"},{"code":"P375","type":"Maps_To","value":"MLH2"},{"code":"P375","type":"Maps_To","value":"PMS1"},{"code":"P100","type":"OMIM_Number","value":"600258"},{"code":"P106","type":"Semantic_Type","value":"Gene or Genome"},{"code":"P207","type":"UMLS_CUI","value":"C0879390"}]}