Pelizaeus-Merzbacher disease (Q1876206): Difference between revisions
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Created claim: named after (P138): Ludwig Merzbacher (Q92286) Tag: Wikidata user interface |
Updated Item |
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| 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 | |||||||||||||||
retrieved: 20 September 2021
reference URL: https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c1a44c5f-744e-4d02-a08f-e7c687531b21-2018-03-07T170000.000Z | |||||||||||||||
Revision as of 20:00, 22 March 2022
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 |
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Statements
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Identifiers
Pelizaeus-Merzbacher Disease
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Sitelinks
Wikipedia(13 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
- 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