OBO ID: DOID:0111745
Term Name: cerebellar ataxia type 43 Search Ontology:
Synonyms:
  • SCA43
Definition: An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. https://www.ncbi.nlm.nih.gov/pubmed/27583304
References:
Ontology: Human Disease   ( DOID:0111745 )
Relationships
is a type of:
OTHER cerebellar ataxia type 43 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MME ?Spinocerebellar ataxia 43
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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