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's subclass of is recorded as spinocerebellar ataxia[5].
- spinocerebellar ataxia type 5's subclass of is recorded as autosomal dominant cerebellar ataxia type III[6].
- spinocerebellar ataxia type 5's OMIM ID is recorded as 600224[7].
- spinocerebellar ataxia type 5's Disease Ontology ID is recorded as DOID:0050882[8].
- spinocerebellar ataxia type 5's Orphanet ID is recorded as 98766[9].
- spinocerebellar ataxia type 5's genetic association is recorded as SPTBN2[10].
- spinocerebellar ataxia type 5's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050882[11].
- spinocerebellar ataxia type 5's exact match is recorded as http://identifiers.org/doid/DOID:0050882[12].
- spinocerebellar ataxia type 5's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_98766[13].
- spinocerebellar ataxia type 5's UMLS CUI is recorded as C0752123[14].
- spinocerebellar ataxia type 5's ICD-10-CM is recorded as G11.2[15].
- spinocerebellar ataxia type 5's GARD rare disease ID is recorded as 4953[16].
- spinocerebellar ataxia type 5's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- spinocerebellar ataxia type 5's Mondo ID is recorded as MONDO_0010848[18].
- spinocerebellar ataxia type 5's UniProt disease ID is recorded as DI-01069[19].