Spinocerebellar Ataxia Type 1

Preferred Label : Spinocerebellar Ataxia Type 1;

NCIt synonyms : SCA1;

NCIt definition : An autosomal dominant neurodegenerative disorder caused by mutations in the ATXN1 gene, encoding ataxin-1. It is characterized by progressive cerebellar ataxia, dysarthria and saccadic abnormalities.;

Details

Origin ID

C129982;

UMLS CUI

C0752120;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia 1 [OMIM Phenotype]
- Spinocerebellar ataxia type 1 [ORDO Disease]
- Spinocerebellar ataxia type 1 [ICD-11 More detail]
- Spinocerebellar ataxia type 1 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 1 [Disease (Nov.)]
- spinocerebellar ataxia type 1 [MeSH concept]
- spinocerebellar ataxia type 1 [DO Concept]
False automatic mappings
- ataxin 1 [ORDO Gene]
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)
- Spinocerebellar ataxia 1 [OMIM Phenotype]
- Spinocerebellar ataxia type 1 [ORDO Disease]
- Spinocerebellar ataxia type 1 [ICD-11 More detail]
- Spinocerebellar ataxia type 1 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 1 [Disease (Nov.)]
- spinocerebellar ataxia type 1 [DO Concept]
- spinocerebellar ataxia type 1 [MeSH concept]
Validated automatic mappings to NTBT
- spinocerebellar ataxias [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- ATXN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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