Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia

Preferred Label : Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia;

NCIt synonyms : ALS10;

NCIt definition : An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the TARDBP gene, encoding TAR DNA-binding protein 43.;

Details

Origin ID

C168752;

UMLS CUI

C2677565;

Automatic exact mappings (from CISMeF team)
- TAR DNA binding protein [ORDO Gene]
Currated CISMeF NLP mapping
- Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia [OMIM Phenotype]
- Amyotrophic lateral sclerosis type 10 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 10 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis type 10 [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 10 with or without frontotemporal dementia [OMIM Phenotype]
- Amyotrophic lateral sclerosis type 10 (disorder) [SNOMED CT concept]
- amyotrophic lateral sclerosis 10 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- TARDBP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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