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DO Term : Pelizaeus-Merzbacher disease [DOID:3210] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • sudanophilic leukodystrophy, Paelizeus-Merzbacher type,
  • GARD:4265,
  • 312080,
  • Leukodystrophy, sudanophilic,
  • HLD1,
  • ORDO:702,
  • MESH:D020371,
  • UMLS_CUI:C0205711,
  • NCI:C75487,
  • hypomyelinating leukodystrophy 1,
  • SNOMEDCT_US_2023_03_01:64855000,
  • Pelizaeus Merzbacher brain sclerosis,
  • diffuse familial brain sclerosis,
  • OMIM:312080,
  • Pelizaeus-Merzbacher brain sclerosis,
  • PMD
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