Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia

Preferred Label : Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia;

NCIt synonyms : ALS6;

NCIt definition : A form of amyotrophic lateral sclerosis caused by heterozygous mutation(s) in the FUS gene, encoding RNA-binding protein FUS.;

Details

Origin ID

C168750;

UMLS CUI

C2931786;

Currated CISMeF NLP mapping
- Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia [OMIM Phenotype]
- Amyotrophic lateral sclerosis type 6 (disorder) [SNOMED CT concept]
- Amyotrophic lateral sclerosis, type 6 [MeSH concept]
- amyotrophic lateral sclerosis 6, autosomal recessive [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis 6, autosomal recessive [MeSH concept]
- amyotrophic lateral sclerosis type 6 [DO Concept]
- amyotrophic lateral sclerosis, type 6 [MeSH Supplementary 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 6 with or without frontotemporal dementia [OMIM Phenotype]
- Amyotrophic lateral sclerosis type 6 (disorder) [SNOMED CT concept]
- Amyotrophic lateral sclerosis, type 6 [MeSH concept]
- amyotrophic lateral sclerosis, type 6 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- FUS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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