Pelizaeus-Merzbacher disease (Q1876206): Difference between revisions
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Updated Item Tag: Reverted |
Removed claim: WikiProjectMed ID (P11143): Pelizaeus–Merzbacher disease, дублирующееся значение / duplicate value Tag: Manual revert |
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| 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 / UMLS CUI | |||||||||||||||
| Property / UMLS CUI: C0751914 / rank | |||||||||||||||
| Property / UMLS CUI: C0751914 / reference | |||||||||||||||
stated in: UMLS 2023 retrieved: 25 May 2023
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| Property / UMLS CUI | |||||||||||||||
| Property / UMLS CUI: C0751915 / rank | |||||||||||||||
| Property / UMLS CUI: C0751915 / reference | |||||||||||||||
stated in: UMLS 2023 retrieved: 25 May 2023
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| Property / UMLS CUI | |||||||||||||||
| Property / UMLS CUI: C0751918 / rank | |||||||||||||||
| Property / UMLS CUI: C0751918 / reference | |||||||||||||||
stated in: UMLS 2023 retrieved: 25 May 2023
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| 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: 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 / 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 | |||||||||||||||
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
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6 references
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Identifiers
Pelizaeus-Merzbacher Disease
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1 reference
2 references
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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