Spinocerebellar Ataxia Type 16

Preferred Label : Spinocerebellar Ataxia Type 16;

NCIt synonyms : SCAR16;

NCIt definition : An autosomal recessive form of spinocerebellar ataxia caused by mutation(s) in the STUB1 gene, encoding E3 ubiquitin-protein ligase CHIP.;

Détails

Origin ID

C150250;

UMLS CUI

C5190574;

Currated CISMeF NLP mapping
- Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency (disorder) [SNOMED CT concept]
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency [ORDO Disease]
- Spinocerebellar ataxia type 16 [ICD-11 More detail]
- Spinocerebellar ataxia, autosomal recessive 16 [OMIM Phenotype]
- autosomal recessive spinocerebellar ataxia 16 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- spinocerebellar ataxia type 15 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency (disorder) [SNOMED CT concept]
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency [ORDO Disease]
- Spinocerebellar ataxia type 16 [ICD-11 More detail]
- Spinocerebellar ataxia, autosomal recessive 16 [OMIM Phenotype]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- STUB1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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