Spinocerebellar ataxia 11

Preferred Label : Spinocerebellar ataxia 11;

Symbol : SCA11;

CISMeF acronym : SCA11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tau tubulin kinase 2 gene (TTBK2, 611695.0001);

Prefixed ID : #604432;

Details

Origin ID

604432;

UMLS CUI

C1858351;

Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type III [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia type 11 [ICD-11 More detail]
- Spinocerebellar ataxia type 11 [ORDO Disease]
- Spinocerebellar ataxia type 11 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 11 [Disease (Nov.)]
- spinocerebellar ataxia 11 [MeSH concept]
- spinocerebellar ataxia 11 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 11 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 11 [DO Concept]
Genes related to phenotype
- Tau tubulin kinase 2 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Hyperreflexia [HPO term]
- Nystagmus [HPO term]
- Progressive cerebellar ataxia [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 11 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia type 11 [ORDO Disease]
- Spinocerebellar ataxia type 11 [ICD-11 More detail]
- Spinocerebellar ataxia type 11 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 11 [MeSH Supplementary Concept]
- spinocerebellar ataxia 11 [MeSH concept]
- spinocerebellar ataxia 11 [Disease (Nov.)]
- spinocerebellar ataxia type 11 [DO Concept]

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