Spinocerebellar ataxia, autosomal recessive 25

Preferred Label : Spinocerebellar ataxia, autosomal recessive 25;

Symbol : SCAR25;

CISMeF acronym : SCAR25;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the autophagy related 5 gene (ATG5, 604261.0001);

Prefixed ID : #617584;

Details

Origin ID

617584;

UMLS CUI

C4539808;

Automatic exact mappings (from CISMeF team)
- autosomal recessive spinocerebellar ataxia 25 [DO Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 25 [DO Concept]
Genes related to phenotype
- Autophagy-related 5 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cognitive impairment [HPO term]
- Delayed ability to walk [HPO term]
- Dysmetria [HPO term]
- Global developmental delay [HPO term]
- Nonprogressive [HPO term]
- Nystagmus [HPO term]
- Truncal ataxia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients