OBO ID: DOID:0111746
Term Name: cerebellar ataxia type 48 Search Ontology:
Synonyms:
  • SCA48
Definition: An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. https://www.ncbi.nlm.nih.gov/pubmed/30381368
References:
Ontology: Human Disease   ( DOID:0111746 )
Relationships
is a type of:
OTHER cerebellar ataxia type 48 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
STUB1 Spinocerebellar ataxia 48 618093
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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