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Namespace Prefixes

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Statements

Subject Item

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n4:ECO_0007636 n4:ECO_0007645

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An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/26344561 url:https://www.omim.org/entry/270550 url:https://www.ncbi.nlm.nih.gov/pubmed/24384335