autosomal recessive spinocerebellar ataxia with axonal neuropathy 3 Disease Ontology Browser

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autosomal recessive spinocerebellar ataxia with axonal neuropathy 3 (DOID:0070465)
Alliance: disease page
Synonyms: SCAN3; spinocerebellar ataxia with axonal neuropathy 3; spinocerebellar ataxia with axonal neuropathy type 3
Alt IDs: OMIM:618387
Definition: An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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