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Human Disease

cerebellar ataxia type 47

Term ID
DOID:0111743
Synonyms
  • SCA47
Definition
An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. https://www.ncbi.nlm.nih.gov/pubmed/29474920
References
Ontology
Human Disease   ( DOID:0111743 )
Relationships
is a type of
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Genes Involved
Zebrafish Models