Pelizaeus-Merzbacher disease (Q1876206): Difference between revisions
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Property / OMIM ID: 312080 / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 11 July 2018
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / OMIM ID: 312080 / reference | |||||||||||||||
retrieved: 11 July 2018
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / OMIM ID: 312080 / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / OMIM ID: 312080 / reference | |||||||||||||||
retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / Disease Ontology ID: DOID:3210 / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 11 July 2018
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / Disease Ontology ID: DOID:3210 / reference | |||||||||||||||
retrieved: 11 July 2018
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / Disease Ontology ID: DOID:3210 / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 15 May 2019
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: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / subclass of: hypomyelinating leukodystrophy / reference | |||||||||||||||
retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / subclass of: X-linked recessive disease / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / subclass of: X-linked recessive disease / reference | |||||||||||||||
retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / NCI Thesaurus ID: C75487 / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 11 July 2018
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / NCI Thesaurus ID: C75487 / reference | |||||||||||||||
retrieved: 11 July 2018
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / NCI Thesaurus ID: C75487 / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / NCI Thesaurus ID: C75487 / 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: 15 May 2019
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 / Orphanet ID: 702 / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 11 July 2018
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / Orphanet ID: 702 / reference | |||||||||||||||
retrieved: 11 July 2018
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / Orphanet ID: 702 / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / Orphanet ID: 702 / reference | |||||||||||||||
retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / instance of: disease / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / instance of: disease / reference | |||||||||||||||
retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / UMLS CUI: C0205711 / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 11 July 2018
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / UMLS CUI: C0205711 / reference | |||||||||||||||
retrieved: 11 July 2018
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / UMLS CUI: C0205711 / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / UMLS CUI: C0205711 / reference | |||||||||||||||
retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / GARD rare disease ID: 4265 / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / GARD rare disease ID: 4265 / reference | |||||||||||||||
retrieved: 15 May 2019
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / MeSH descriptor ID: D020371 / reference | |||||||||||||||
stated in: Disease Ontology retrieved: 11 July 2018
Disease Ontology ID: DOID:3210 | |||||||||||||||
Property / MeSH descriptor ID: D020371 / reference | |||||||||||||||
retrieved: 11 July 2018
Disease Ontology ID: DOID:3210 |
Revision as of 20:48, 28 August 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 |
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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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C75487
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Identifiers
Pelizaeus-Merzbacher Disease
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Sitelinks
Wikipedia(12 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
- 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