Pelizaeus-Merzbacher disease (Q1876206)

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Revision as of 20:28, 12 September 2023 by Bamyers99 (talk | contribs) (‎Created claim: UniProt disease ID (P11430): DI-00903)
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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
  • Leukodystrophy, sudanophilic
  • Pelizaeus Merzbacher brain sclerosis
  • Pelizaeus-Merzbacher disease (disorder)
  • HLD1
  • PMD
  • Pelizaeus-Merzbacher brain sclerosis
  • diffuse familial brain sclerosis
  • hypomyelinating leukodystrophy 1
  • sudanophilic leukodystrophy, Paelizeus-Merzbacher type
  • PELIZAEUS-MERZBACHER DISEASE
  • PELIZAEUS-MERZBACHER DISEASE; PMD
  • Pelizaeus Merzbacher disease
  • Leukodystrophy, Hypomyelinating, 1
Language Label Description Also known as
English
Pelizaeus-Merzbacher disease
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
  • Leukodystrophy, sudanophilic
  • Pelizaeus Merzbacher brain sclerosis
  • Pelizaeus-Merzbacher disease (disorder)
  • HLD1
  • PMD
  • Pelizaeus-Merzbacher brain sclerosis
  • diffuse familial brain sclerosis
  • hypomyelinating leukodystrophy 1
  • sudanophilic leukodystrophy, Paelizeus-Merzbacher type
  • PELIZAEUS-MERZBACHER DISEASE
  • PELIZAEUS-MERZBACHER DISEASE; PMD
  • Pelizaeus Merzbacher disease
  • Leukodystrophy, Hypomyelinating, 1

Statements

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Identifiers

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8A44.0
Pelizaeus-Merzbacher disease
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