Amyotrophic Lateral Sclerosis 21

Preferred Label : Amyotrophic Lateral Sclerosis 21;

NCIt synonyms : ALS21;

NCIt definition : An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the MATR3 gene, encoding matrin-3.;

Details

Origin ID

C168755;

UMLS CUI

C3807521;

Automatic exact mappings (from CISMeF team)
- Amyotrophic lateral sclerosis 21 [OMIM Phenotype]
Currated CISMeF NLP mapping
- amyotrophic lateral sclerosis type 21 [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)
- Amyotrophic lateral sclerosis 21 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- MATR3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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