Terminology Service for NFDI4Health

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