{"code":"C189921","name":"Spastic Paraplegia 31","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Spastic Paraplegia 31","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Spastic Paraplegia 31","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"SPG31","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Spastic Paraplegia 31","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal dominant subtype of hereditary spastic paraplegia caused by mutation(s) in the REEP1 gene, encoding receptor expression-enhancing protein 1.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C1853247"}],"parents":[{"code":"C140267","name":"Hereditary Spastic Paraplegia"}],"roles":[{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12438","relatedName":"Central Nervous System"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12438","relatedName":"Central Nervous System"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12755","relatedName":"Nervous System"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12755","relatedName":"Nervous System"},{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C204947","relatedName":"REEP1 Gene"}]}