{"code":"C84927","name":"Infantile Neuroaxonal Dystrophy","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Infantile Neuroaxonal Dystrophy","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Infantile Neuroaxonal Dystrophy","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Infantile Neuroaxonal Dystrophy","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spheroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia.","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":"C0270724"}],"parents":[{"code":"C27586","name":"Non-Neoplastic Central Nervous System Disorder"},{"code":"C53543","name":"Rare Non-Neoplastic Disorder"}],"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":"C38597","relatedName":"PLA2G6 Gene"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}