Pelizaeus-Merzbacher disease (Q1876206): Difference between revisions

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‎Removed claim: NCI Thesaurus ID (P1748): C75487
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‎Updated Item
Property / MeSH descriptor ID: D020371 / reference
 
stated in: Monarch Disease Ontology release 2018-06-29
retrieved: 3 July 2018
Timestamp+2018-07-03T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Mondo ID: MONDO:0010714
Property / MeSH descriptor ID: D020371 / reference
stated in: Disease Ontology
retrieved: 11 July 2018
Timestamp+2018-07-11T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / MeSH descriptor ID: D020371 / reference
stated in: Monarch Disease Ontology release 2018-06-29
retrieved: 3 July 2018
Timestamp+2018-07-03T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Mondo ID: MONDO:0010714
 

Revision as of 21:26, 7 September 2020

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

Identifiers

 
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