spinocerebellar ataxia type 14
Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.
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spinocerebellar ataxia type 14
Summary
spinocerebellar ataxia type 14 is a developmental defect during embryogenesis[1].
Key Facts
- spinocerebellar ataxia type 14's instance of is recorded as developmental defect during embryogenesis[2].
- spinocerebellar ataxia type 14's instance of is recorded as rare disease[3].
- spinocerebellar ataxia type 14's instance of is recorded as class of disease[4].
- spinocerebellar ataxia type 14's subclass of is recorded as spinocerebellar ataxia[5].
- spinocerebellar ataxia type 14's subclass of is recorded as autosomal dominant cerebellar ataxia type I[6].
- spinocerebellar ataxia type 14's MeSH descriptor ID is recorded as C537196[7].
- spinocerebellar ataxia type 14's OMIM ID is recorded as 605361[8].
- spinocerebellar ataxia type 14's Disease Ontology ID is recorded as DOID:0050964[9].
- spinocerebellar ataxia type 14's Orphanet ID is recorded as 98763[10].
- spinocerebellar ataxia type 14's genetic association is recorded as PRKCG[11].
- spinocerebellar ataxia type 14's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050964[12].
- spinocerebellar ataxia type 14's exact match is recorded as http://identifiers.org/doid/DOID:0050964[13].
- spinocerebellar ataxia type 14's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_98763[14].
- spinocerebellar ataxia type 14's UMLS CUI is recorded as C1854369[15].
- spinocerebellar ataxia type 14's ICD-10-CM is recorded as G11.2[16].
- spinocerebellar ataxia type 14's GARD rare disease ID is recorded as 9867[17].
- spinocerebellar ataxia type 14's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- spinocerebellar ataxia type 14's Mondo ID is recorded as MONDO_0011540[19].
- spinocerebellar ataxia type 14's UniProt disease ID is recorded as DI-01077[20].