Pelizaeus-Merzbacher Disease
Go to external page
http://purl.obolibrary.org/obo/NCIT_C75487
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. [ ]
Term info
Label
Pelizaeus-Merzbacher Disease
Synonyms
- Pelizaeus-Merzbacher Disease
Legacy Concept Name
Pelizaeus_Merzbacher_Disease
Preferred Name
Pelizaeus-Merzbacher Disease
Semantic Type
Disease or Syndrome
UMLS CUI
C0205711
code
C75487
Term relations
Subclass of:
- Rare Non-Neoplastic Disorder
- Central Nervous System Degenerative Disorder
- Disease_Mapped_To_Gene some PLP1 Gene
Related from: