{"code":"C84988","name":"Pantothenate Kinase-Associated Neurodegeneration","terminology":"ncit","version":"26.10d","conceptStatus":"Retired_Concept","leaf":true,"active":false,"synonyms":[{"name":"Pigmentary pallidal degeneration","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"caDSR"},{"name":"Pantothenate Kinase-Associated Neurodegeneration","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Hallervorden-Spatz Disease","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"HARP Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"NBIA1","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Neuroaxonal Dystrophy, Late Infantile","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Pantothenate Kinase-Associated Neurodegeneration","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"PKAN Neuroaxonal Dystrophy, Juvenile-Onset","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Pantothenate Kinase-Associated Neurodegeneration","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A rare autosomal recessive inherited disorder caused by mutations in the PANK2 gene. It is characterized by abnormal accumulation of iron in the basal ganglia. Signs and symptoms include progressive motor disturbances, muscle spasm and rigidity, dysarthria, mental deterioration, and behavioral changes.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P310","type":"Concept_Status","value":"Retired_Concept"},{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"owl:deprecated","type":"deprecated","value":"true"},{"code":"P98","type":"DesignNote","value":"Wed May 28 10:55:44 EDT 2025 - See 'Brain Iron Accumulation Type I Syndrome(C8967)'"},{"code":"P364","type":"OLD_ASSOCIATION","value":"A8|C165258"},{"code":"P200","type":"OLD_PARENT","value":"C53543"},{"code":"P200","type":"OLD_PARENT","value":"C97073"},{"code":"P204","type":"OLD_ROLE","value":"R176|some|C191801"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"}],"parents":[{"code":"C223967","name":"Retired Concept 2025"}]}