Amyotrophic Lateral Sclerosis 8

Preferred Label : Amyotrophic Lateral Sclerosis 8;

NCIt synonyms : ALS8;

NCIt definition : An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the VAPB gene, encoding vesicle-associated membrane protein-associated protein B/C.;

Détails

Origin ID

C168751;

UMLS CUI

C1837728;

Currated CISMeF NLP mapping
- Amyotrophic lateral sclerosis 8 [OMIM Phenotype]
- Amyotrophic lateral sclerosis type 8 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 8 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis 8 [MeSH concept]
- amyotrophic lateral sclerosis type 8 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- VAMP associated protein B and C [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amyotrophic lateral sclerosis 8 [OMIM Phenotype]
- Amyotrophic lateral sclerosis type 8 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 8 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis 8 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- VAPB Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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