Spinocerebellar ataxia with rigidity and peripheral neuropathy

Preferred Label : Spinocerebellar ataxia with rigidity and peripheral neuropathy;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Prefixed ID : %183050;

Détails

Origin ID

183050;

UMLS CUI

C1866770;

Currated CISMeF NLP mapping
- spinocerebellar ataxia with rigidity and peripheral neuropathy [MeSH concept]
- spinocerebellar ataxia with rigidity and peripheral neuropathy [MeSH Supplementary Concept]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Dysarthria [HPO term]
- Fasciculations [HPO term]
- Polyneuropathy [HPO term]
- Rigidity [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spasticity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spinocerebellar ataxia with rigidity and peripheral neuropathy [MeSH Supplementary Concept]
- spinocerebellar ataxia with rigidity and peripheral neuropathy [MeSH concept]

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

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