Spinocerebellar ataxia, autosomal recessive 24

Preferred Label : Spinocerebellar ataxia, autosomal recessive 24;

Symbol : SCAR24;

CISMeF acronym : SCAR24;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ubiquitin like modifier activating enzyme 5 gene (UBA5, 610552.0012);

Prefixed ID : #617133;

Details

Origin ID

617133;

UMLS CUI

C4310699;

Automatic exact mappings (from CISMeF team)
- autosomal recessive spinocerebellar ataxia 24 [DO Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 24 [DO Concept]
Genes related to phenotype
- Ubiquitin-like modifier-activating enzyme 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Gait ataxia [HPO term]
- Limb ataxia [HPO term]
- Nystagmus [HPO term]
- Progressive [HPO term]
- Spastic gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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