Amyotrophic Lateral Sclerosis 11

Preferred Label : Amyotrophic Lateral Sclerosis 11;

NCIt synonyms : ALS11;

NCIt definition : An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the FIG4 gene, encoding polyphosphoinositide phosphatase.;

Details

Origin ID

C168753;

UMLS CUI

C2675491;

Currated CISMeF NLP mapping
- Amyotrophic lateral sclerosis 11 [OMIM Phenotype]
- amyotrophic lateral sclerosis 11 [MeSH concept]
- amyotrophic lateral sclerosis 11 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis type 11 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- FIG4 phosphoinositide 5-phosphatase [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amyotrophic lateral sclerosis 11 [OMIM Phenotype]
- amyotrophic lateral sclerosis 11 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis 11 [MeSH concept]
- amyotrophic lateral sclerosis type 11 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- FIG4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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