Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia

Preferred Label : Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia;

NCIt synonyms : ALS14;

NCIt definition : A form of amyotrophic lateral sclerosis caused by heterozygous mutation(s) in the VCP gene, encoding transitional endoplasmic reticulum ATPase.;

Details

Origin ID

C168754;

UMLS CUI

C3151403;

Currated CISMeF NLP mapping
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [OMIM Phenotype]
- amyotrophic lateral sclerosis type 14 [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)
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [OMIM Phenotype]
- amyotrophic lateral sclerosis type 14 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- VCP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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