Search Ontology:
Human Disease

Pelizaeus-Merzbacher disease

Term ID
DOID:3210
Synonyms
  • diffuse familial brain sclerosis
  • HLD1
  • hypomyelinating leukodystrophy 1
  • Leukodystrophy, sudanophilic
  • Pelizaeus Merzbacher brain sclerosis
  • Pelizaeus-Merzbacher brain sclerosis
  • PMD
  • sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Definition
A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. (4)
References
Ontology
Human Disease   ( DOID:3210 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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