OBO ID: DOID:0111743
Term Name: cerebellar ataxia type 47 Search Ontology:
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:
OTHER cerebellar ataxia type 47 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PUM1 Spinocerebellar ataxia 47 617931
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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