Pelizaeus-Merzbacher disease (Q1876206): Difference between revisions

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‎Changed claim: MeSH descriptor ID (P486): D020371
‎Removed claim: WikiProjectMed ID (P11143): Pelizaeus–Merzbacher disease, дублирующееся значение / duplicate value
Tag: Manual revert
 
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label / frlabel / fr
maladie de Pelizaeus-Merzbacher
maladie de Pelizaeus-merzbacher
label / falabel / fa
 
بیماری پیلیتسئوس-مرتسباخر
label / filabel / fi
 
Pelizaeus–Merzbacherin tauti
Property / OMIM ID
 
Property / OMIM ID: 312080 / rank
Normal rank
 
Property / OMIM ID: 312080 / qualifier
 
Property / OMIM ID: 312080 / reference
stated in: Disease Ontology release 2018-07-05
retrieved: 11 July 2018
Timestamp+2018-07-11T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / OMIM ID: 312080 / 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 / OMIM ID
 
Property / OMIM ID: 213900 / rank
Normal rank
 
Property / OMIM ID: 213900 / qualifier
 
Property / OMIM ID: 213900 / 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 / OMIM ID: 312080 / reference
 
stated in: Disease Ontology
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
Property / OMIM ID: 312080 / reference
stated in: Disease Ontology release 2019-05-13
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / Disease Ontology ID
 
Property / Disease Ontology ID: DOID:3210 / rank
Normal rank
 
Property / Disease Ontology ID: DOID:3210 / qualifier
 
Property / Disease Ontology ID: DOID:3210 / reference
stated in: Disease Ontology release 2018-07-05
retrieved: 11 July 2018
Timestamp+2018-07-11T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / Disease Ontology ID: DOID:3210 / 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 / Disease Ontology ID: DOID:3210 / reference
 
stated in: Disease Ontology
retrieved: 30 November 2020
Timestamp+2020-11-30T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
Property / Disease Ontology ID: DOID:3210 / reference
stated in: Disease Ontology release 2019-05-13
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / subclass of: hypomyelinating leukodystrophy / reference
 
stated in: Disease Ontology
retrieved: 30 November 2020
Timestamp+2020-11-30T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
Property / subclass of: hypomyelinating leukodystrophy / reference
stated in: Disease Ontology release 2019-05-13
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / subclass of: nervous system heredodegenerative disease / 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 / subclass of: nervous system heredodegenerative disease / 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 / subclass of: eye degenerative disease / 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 / subclass of: eye degenerative disease / 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 / subclass of: X-linked recessive disease / reference
 
stated in: Disease Ontology
retrieved: 30 November 2020
Timestamp+2020-11-30T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
Property / subclass of: X-linked recessive disease / reference
stated in: Disease Ontology release 2019-05-13
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / NCI Thesaurus ID
C75487
 
Property / NCI Thesaurus ID: C75487 / rank
Normal rank
 
Property / NCI Thesaurus ID: C75487 / qualifier
 
Property / NCI Thesaurus ID: C75487 / reference
stated in: Disease Ontology release 2018-07-05
retrieved: 11 July 2018
Timestamp+2018-07-11T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / NCI Thesaurus ID: C75487 / 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 / NCI Thesaurus ID: C75487 / reference
 
stated in: Disease Ontology
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
Property / NCI Thesaurus ID: C75487 / reference
stated in: Disease Ontology release 2019-05-13
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / exact match: http://purl.obolibrary.org/obo/DOID_3210 / reference
 
stated in: Disease Ontology
retrieved: 30 November 2020
Timestamp+2020-11-30T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
Property / exact match: http://purl.obolibrary.org/obo/DOID_3210 / reference
stated in: Disease Ontology release 2019-05-13
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / exact match: http://identifiers.org/doid/DOID:3210 / reference
 
Property / exact match: http://identifiers.org/doid/DOID:3210 / reference
 
Property / Orphanet ID
 
Property / Orphanet ID: 702 / rank
Normal rank
 
Property / Orphanet ID: 702 / qualifier
 
Property / Orphanet ID: 702 / reference
stated in: Disease Ontology release 2018-07-05
retrieved: 11 July 2018
Timestamp+2018-07-11T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / Orphanet ID: 702 / 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 / Orphanet ID: 702 / reference
 
stated in: Disease Ontology
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
Property / Orphanet ID: 702 / reference
stated in: Disease Ontology release 2019-05-13
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / instance of
 
Property / instance of: disease / rank
Normal rank
 
Property / instance of: disease / reference
stated in: Disease Ontology release 2019-05-13
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / UMLS CUI
 
Property / UMLS CUI: C0205711 / rank
Normal rank
 
Property / UMLS CUI: C0205711 / qualifier
 
Property / UMLS CUI: C0205711 / reference
stated in: Disease Ontology release 2018-07-05
retrieved: 11 July 2018
Timestamp+2018-07-11T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / UMLS CUI: C0205711 / 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 / UMLS CUI: C0205711 / reference
 
stated in: Disease Ontology
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
Property / UMLS CUI: C0205711 / reference
stated in: Disease Ontology release 2019-05-13
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
 
Property / GARD rare disease ID: 4265 / 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 / GARD rare disease ID: 4265 / reference
 
stated in: Disease Ontology
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

Disease Ontology ID: DOID:3210
Property / GARD rare disease ID: 4265 / 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 / GARD rare disease ID: 4265 / reference
stated in: Disease Ontology release 2019-05-13
retrieved: 15 May 2019
Timestamp+2019-05-15T00:00:00Z
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
Property / MeSH descriptor ID: D020371 / reference
stated in: Disease Ontology release 2018-07-05
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
 
Property / Mondo ID
 
Property / Mondo ID: MONDO:0010714 / rank
Normal rank
 
Property / Mondo ID: MONDO:0010714 / 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 / ICD-10-CM: E75.2 / 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 / ICD-10-CM: E75.2 / 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 / genetic association: PLP1 / reference
 
stated in: ClinGen
retrieved: 9 December 2020
Timestamp+2020-12-09T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

reference URL: https://search.clinicalgenome.org/kb/gene-validity/9598
Property / genetic association: PLP1 / reference
 
stated in: ClinGen
retrieved: 26 January 2021
Timestamp+2021-01-26T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

reference URL: https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9598
Property / genetic association: PLP1 / reference
 
Property / genetic association: PLP1 / reference
 
Property / genetic association: PLP1 / reference
stated in: ClinGen
retrieved: 4 May 2020
Timestamp+2020-05-04T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0

reference URL: https://search.clinicalgenome.org/kb/gene-validity/9598
 
Property / instance of
 
Property / instance of: class of disease / rank
 
Normal rank
Property / on focus list of Wikimedia project
 
Property / on focus list of Wikimedia project: WikiProject Medicine / rank
 
Normal rank
Property / ICD-11 ID (MMS)
 
8A44.0
Property / ICD-11 ID (MMS): 8A44.0 / rank
 
Normal rank
Property / ICD-11 ID (MMS): 8A44.0 / qualifier
 
subject named as: Pelizaeus-Merzbacher disease
Property / ICD-11 ID (Foundation)
 
Property / ICD-11 ID (Foundation): 1313582105 / rank
 
Normal rank
Property / Genetics Home Reference Conditions ID
 
Property / Genetics Home Reference Conditions ID: pelizaeus-merzbacher-disease / rank
 
Normal rank
Property / DeCS ID
 
Property / DeCS ID: 34310 / rank
 
Normal rank
Property / GeneReviews ID
 
Property / GeneReviews ID: NBK470716/ / rank
 
Normal rank
Property / named after
 
Property / named after: Friedrich Christoph Pelizaeus / rank
 
Normal rank
Property / named after
 
Property / named after: Ludwig Merzbacher / rank
 
Normal rank
Property / UniProt disease ID
 
Property / UniProt disease ID: DI-00903 / rank
 
Normal rank
Property / WikiProjectMed ID
 
Property / WikiProjectMed ID: Pelizaeus–Merzbacher disease / rank
 
Normal rank
Property / Mondo ID
 
Property / Mondo ID: MONDO_0010714 / rank
 
Normal rank
links / fawiki / namelinks / fawiki / name
 
links / fiwiki / namelinks / fiwiki / name
 

Latest revision as of 07:51, 15 June 2024

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

instance of
rare disease
0 references
class of disease
0 references

Identifiers

DeCS ID
34310
0 references
GeneReviews ID
NBK470716/
0 references
ICD-11 ID (MMS)
8A44.0
subject named as
Pelizaeus-Merzbacher disease
0 references
Mondo ID
MONDO_0010714
0 references
 
                  Retrieved from "https://www.wikidata.org/w/index.php?title=Q1876206&oldid=2180147825"