{"code":"C75487","name":"Pelizaeus-Merzbacher Disease","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Pelizaeus-Merzbacher Disease","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Pelizaeus-Merzbacher Disease","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Pelizaeus-Merzbacher Disease","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An X-linked inherited disorder caused by mutations in the PLP1 gene on chromosome X.  The signs and symptoms are the result of defective myelination of the central nervous system and include nystagmus, hypotonia, tremor, ataxia, spastic quadriparesis, and diffuse leukoencephalopathy.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P366","type":"Legacy Concept Name","value":"Pelizaeus_Merzbacher_Disease"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0205711"}],"parents":[{"code":"C4802","name":"Central Nervous System Degenerative Disorder"},{"code":"C53543","name":"Rare Non-Neoplastic Disorder"},{"code":"C85865","name":"X-Linked Inherited 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":"R174","type":"Disease_Mapped_To_Chromosome","relatedCode":"C13285","relatedName":"Human Chromosome X"},{"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":"C75897","relatedName":"PLP1 Gene"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}