OBO ID: DOID:0090115
Term Name: spinocerebellar ataxia type 1 with axonal neuropathy Search Ontology:
Synonyms:
  • autosomal recessive spinocerebellar ataxia with axonal neuropathy
  • SCAN1
Definition: A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94124
References:
Ontology: Human Disease   (DOID:0090115)
OTHER spinocerebellar ataxia type 1 with axonal neuropathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TDP1 ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 607250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None