OBO ID: DOID:3210
Term Name: Pelizaeus-Merzbacher disease Search Ontology:
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 Pelizaeus-Merzbacher disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLP1 Pelizaeus-Merzbacher disease 312080
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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