Pelizaeus-Merzbacher disease (Q1876206): Difference between revisions
Jump to navigation
Jump to search
Created claim: ICD-11 ID (Foundation) (P7807): 1313582105, #quickstatements; #temporary_batch_1605539224770 |
Removed claim: WikiProjectMed ID (P11143): Pelizaeus–Merzbacher disease, дублирующееся значение / duplicate value Tag: Manual revert |
||||||||||||||
(32 intermediate revisions by 14 users not shown) | |||||||||||||||
label / fr | label / fr | ||||||||||||||
maladie de Pelizaeus- | maladie de Pelizaeus-merzbacher | ||||||||||||||
label / fi | label / fi | ||||||||||||||
Pelizaeus–Merzbacherin tauti | |||||||||||||||
Property / OMIM ID | |||||||||||||||
Property / OMIM ID: 213900 / rank | |||||||||||||||
Property / OMIM ID: 213900 / qualifier | |||||||||||||||
Property / OMIM ID: 213900 / reference | |||||||||||||||
retrieved: 3 July 2018
Mondo ID: MONDO:0010714 | |||||||||||||||
Property / Disease Ontology ID: DOID:3210 / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 30 November 2020
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / Disease Ontology ID: DOID:3210 / reference | |||||||||||||||
retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / subclass of: hypomyelinating leukodystrophy / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 30 November 2020
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / subclass of: hypomyelinating leukodystrophy / reference | |||||||||||||||
retrieved: 15 May 2019
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
Mondo ID: MONDO_0010714 | |||||||||||||||
Property / subclass of: nervous system heredodegenerative disease / reference | |||||||||||||||
retrieved: 3 July 2018
Mondo ID: MONDO:0010714 | |||||||||||||||
Property / subclass of: eye degenerative disease / reference | |||||||||||||||
stated in: Monarch Disease Ontology release 2018-06-29 retrieved: 3 July 2018
Mondo ID: MONDO_0010714 | |||||||||||||||
Property / subclass of: eye degenerative disease / reference | |||||||||||||||
retrieved: 3 July 2018
Mondo ID: MONDO:0010714 | |||||||||||||||
Property / subclass of: X-linked recessive disease / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 30 November 2020
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / subclass of: X-linked recessive disease / reference | |||||||||||||||
retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / exact match: http://purl.obolibrary.org/obo/DOID_3210 / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 30 November 2020
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / exact match: http://purl.obolibrary.org/obo/DOID_3210 / reference | |||||||||||||||
retrieved: 15 May 2019
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 / instance of | |||||||||||||||
Property / instance of: disease / rank | |||||||||||||||
Property / instance of: disease / reference | |||||||||||||||
retrieved: 15 May 2019
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
Mondo ID: MONDO_0010714 | |||||||||||||||
Property / GARD rare disease ID: 4265 / reference | |||||||||||||||
retrieved: 3 July 2018
Mondo ID: MONDO:0010714 | |||||||||||||||
Property / MeSH descriptor ID: D020371 / reference | |||||||||||||||
stated in: Monarch Disease Ontology release 2018-06-29 retrieved: 3 July 2018
Mondo ID: MONDO_0010714 | |||||||||||||||
Property / MeSH descriptor ID: D020371 / reference | |||||||||||||||
retrieved: 3 July 2018
Mondo ID: MONDO:0010714 | |||||||||||||||
Property / Mondo ID | |||||||||||||||
Property / Mondo ID: MONDO:0010714 / rank | |||||||||||||||
Property / Mondo ID: MONDO:0010714 / reference | |||||||||||||||
retrieved: 3 July 2018
Mondo ID: MONDO:0010714 | |||||||||||||||
Property / ICD-10-CM: E75.2 / reference | |||||||||||||||
stated in: Monarch Disease Ontology release 2018-06-29 retrieved: 3 July 2018
Mondo ID: MONDO_0010714 | |||||||||||||||
Property / ICD-10-CM: E75.2 / reference | |||||||||||||||
retrieved: 3 July 2018
Mondo ID: MONDO:0010714 | |||||||||||||||
Property / genetic association: PLP1 / reference | |||||||||||||||
stated in: ClinGen retrieved: 9 December 2020
reference URL: https://search.clinicalgenome.org/kb/gene-validity/9598 | |||||||||||||||
Property / genetic association: PLP1 / reference | |||||||||||||||
stated in: ClinGen retrieved: 26 January 2021
reference URL: https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9598 | |||||||||||||||
Property / genetic association: PLP1 / reference | |||||||||||||||
stated in: ClinGen retrieved: 22 March 2022
reference URL: https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1a44c5f-744e-4d02-a08f-e7c687531b21-2018-03-07T170000.000Z | |||||||||||||||
Property / genetic association: PLP1 / reference | |||||||||||||||
stated in: Open Targets Platform retrieved: 24 August 2023
reference URL: https://platform.opentargets.org/evidence/ENSG00000123560/MONDO_0010714 based on heuristic: inferred from an Open Targets association score over 0.7 | |||||||||||||||
Property / genetic association: PLP1 / reference | |||||||||||||||
retrieved: 4 May 2020
reference URL: https://search.clinicalgenome.org/kb/gene-validity/9598 | |||||||||||||||
Property / instance of | |||||||||||||||
Property / instance of: class of disease / 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 / fiwiki / name | links / 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 |
|
Statements
1 reference
1 reference
1 reference
1 reference
6 references
1 reference
1 reference
Identifiers
Pelizaeus-Merzbacher Disease
1 reference
1 reference
2 references
1 reference
1 reference
2 references
Sitelinks
Wikipedia(14 entries)
- arwiki مرض بليزايوس ميرتسباخر
- bat_smgwiki Pelizaeus-Merzbacher lėga
- cawiki Malaltia de Pelizaeus-Merzbacher
- dewiki Pelizaeus-Merzbacher-Krankheit
- enwiki Pelizaeus–Merzbacher disease
- eswiki Enfermedad de Pelizaeus-Merzbacher
- fawiki بیماری پیلیتسئوس-مرتسباخر
- fiwiki Pelizaeus–Merzbacherin tauti
- frwiki Maladie en rapport avec la mutation du gène PLP1
- glwiki Doenza de Pelizaeus-Merzbacher
- ltwiki Pelizaeus-Merzbacher liga
- nlwiki Ziekte van Pelizaeus-Merzbacher
- nnwiki Pelizaeus-Merzbacher-sjukdomen
- plwiki Choroba Pelizaeusa-Merzbachera