spinocerebellar ataxia type 27
Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.
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spinocerebellar ataxia type 27
Summary
spinocerebellar ataxia type 27 is a developmental defect during embryogenesis[1].
Key Facts
- spinocerebellar ataxia type 27's instance of is recorded as developmental defect during embryogenesis[2].
- spinocerebellar ataxia type 27's instance of is recorded as rare disease[3].
- spinocerebellar ataxia type 27's instance of is recorded as class of disease[4].
- spinocerebellar ataxia type 27's subclass of is recorded as spinocerebellar ataxia[5].
- spinocerebellar ataxia type 27's subclass of is recorded as autosomal dominant cerebellar ataxia type I[6].
- spinocerebellar ataxia type 27's MeSH descriptor ID is recorded as C537204[7].
- spinocerebellar ataxia type 27's OMIM ID is recorded as 609307[8].
- spinocerebellar ataxia type 27's Disease Ontology ID is recorded as DOID:0050976[9].
- spinocerebellar ataxia type 27's Orphanet ID is recorded as 98764[10].
- spinocerebellar ataxia type 27's genetic association is recorded as FGF14[11].
- spinocerebellar ataxia type 27's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050976[12].
- spinocerebellar ataxia type 27's exact match is recorded as http://identifiers.org/doid/DOID:0050976[13].
- spinocerebellar ataxia type 27's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_98764[14].
- spinocerebellar ataxia type 27's UMLS CUI is recorded as C1836383[15].
- spinocerebellar ataxia type 27's ICD-10-CM is recorded as G11.8[16].
- spinocerebellar ataxia type 27's GARD rare disease ID is recorded as 9963[17].
- spinocerebellar ataxia type 27's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- spinocerebellar ataxia type 27's Mondo ID is recorded as MONDO_0012247[19].