Pelizaeus-Merzbacher Disease

Preferred Label : Pelizaeus-Merzbacher Disease;

NCIt synonyms : Pelizaeus Merzbacher Disease;

NCIt definition : An X-linked inherited disorder caused by mutations in the PLP1 gene on chromosome X. The signs and symptoms are the result of defective myelination of the central nervous system and include nystagmus, hypotonia, tremor, ataxia, spastic quadriparesis, and diffuse leukoencephalopathy.;

Details

Origin ID

C75487;

UMLS CUI

C0205711;

Automatic exact mappings (from CISMeF team)
- proteolipid protein 1 [ORDO Gene]
- proteolipid protein 1 [HGNC gene]
Currated CISMeF NLP mapping
- Pelizaeus Merzbacher disease [Disease (Nov.)]
- Pelizaeus-Merzbacher disease [DO Concept]
- Pelizaeus-Merzbacher disease [PASCAL descriptor]
- Pelizaeus-Merzbacher disease [ICD-11 Subcategory]
- Pelizaeus-Merzbacher disease [MedDRA Preferred Term]
- Pelizaeus-Merzbacher disease [MeSH concept]
- Pelizaeus-Merzbacher disease [ORDO Disease]
- Pelizaeus-Merzbacher disease (disorder) [SNOMED CT concept]
- Pelizaeus-merzbacher disease [OMIM Phenotype]
- Pelizaeus–Merzbacher disease [PASCAL descriptor]
- Sudanophilic leukodystrophy [HPO term]
- pelizaeus-merzbacher disease [MeSH Descriptor]
- pelizaeus-merzbacher disease [SNOMED Notion]
DO Cross reference
- Pelizaeus-Merzbacher disease [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pelizaeus Merzbacher disease [Disease (Nov.)]
- Pelizaeus-Merzbacher disease [MedDRA Preferred Term]
- Pelizaeus-Merzbacher disease [MeSH concept]
- Pelizaeus-Merzbacher disease [ORDO Disease]
- Pelizaeus-Merzbacher disease [PASCAL descriptor]
- Pelizaeus-Merzbacher disease [DO Concept]
- Pelizaeus-Merzbacher disease (disorder) [SNOMED CT concept]
- Pelizaeus-merzbacher disease [OMIM Phenotype]
- Pelizaeus–Merzbacher disease [PASCAL descriptor]
- Sudanophilic leukodystrophy [HPO term]
- pelizaeus-merzbacher disease [MeSH Descriptor]
- pelizaeus-merzbacher disease [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Myelin Proteolipid Protein [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- PLP1 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PLP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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