{"code":"C84814","name":"Leigh Disease","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Leigh Disease","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Leigh's disease","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"mCode","code":"G31.82","subSource":"ICD-10 CM"},{"name":"Leigh Disease","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Leigh Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Leigh Disease","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Leigh's Disease","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Leigh Disease","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P322","type":"Contributing_Source","value":"mCode"},{"code":"P322","type":"Contributing_Source","value":"NICHD"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C4229116"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"}],"roles":[{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}