Spinocerebellar Ataxia Type 42

Preferred Label : Spinocerebellar Ataxia Type 42;

NCIt synonyms : SCA42;

NCIt definition : An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the CACNA1G gene, encoding voltage-dependent T-type calcium channel subunit alpha-1G.;

NCI Metathesaurus CUI : CL1405568;

Details

Origin ID

C171269;

UMLS CUI

C4225205;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia 42 [OMIM Phenotype]
- Spinocerebellar ataxia type 42 [ORDO Disease]
- Spinocerebellar ataxia type 42 (disorder) [SNOMED CT concept]
- cerebellar ataxia type 42 [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)
- Spinocerebellar ataxia 42 [OMIM Phenotype]
- Spinocerebellar ataxia type 42 (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CACNA1G Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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