OBO ID: DOID:0090115 |
Term Name: | spinocerebellar ataxia with axonal neuropathy 1 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0090115 ) |
OTHER spinocerebellar ataxia with axonal neuropathy 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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