spinocerebellar ataxia type 5
autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has material basis in mutation in the SPTBN2 gene
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spinocerebellar ataxia type 5
Summary
spinocerebellar ataxia type 5 is a developmental defect during embryogenesis[1].
Key Facts
- spinocerebellar ataxia type 5's instance of is recorded as developmental defect during embryogenesis[2].
- spinocerebellar ataxia type 5's instance of is recorded as rare disease[3].
- spinocerebellar ataxia type 5's instance of is recorded as class of disease[4].
- spinocerebellar ataxia type 5 is a type of spinocerebellar ataxia[5].
- spinocerebellar ataxia type 5 is a type of autosomal dominant cerebellar ataxia type III[6].
- spinocerebellar ataxia type 5's genetic association is recorded as SPTBN2[7].
- spinocerebellar ataxia type 5's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050882[8].
- spinocerebellar ataxia type 5's exact match is recorded as http://identifiers.org/doid/DOID:0050882[9].
- spinocerebellar ataxia type 5's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_98766[10].
- spinocerebellar ataxia type 5's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].