spinocerebellar ataxia type 2
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea
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spinocerebellar ataxia type 2
Summary
spinocerebellar ataxia type 2 is a rare disease[1].
Key Facts
- spinocerebellar ataxia type 2's instance of is recorded as rare disease[2].
- spinocerebellar ataxia type 2's instance of is recorded as class of disease[3].
- spinocerebellar ataxia type 2's subclass of is recorded as spinocerebellar ataxia[4].
- spinocerebellar ataxia type 2's subclass of is recorded as autosomal dominant cerebellar ataxia type I[5].
- spinocerebellar ataxia type 2's subclass of is recorded as Huntington's disease-like syndrome[6].
- spinocerebellar ataxia type 2's subclass of is recorded as familial amyotrophic lateral sclerosis[7].
- spinocerebellar ataxia type 2's OMIM ID is recorded as 183090[8].
- spinocerebellar ataxia type 2's Disease Ontology ID is recorded as DOID:0050955[9].
- spinocerebellar ataxia type 2's Orphanet ID is recorded as 98756[10].
- spinocerebellar ataxia type 2's NCI Thesaurus ID is recorded as C148315[11].
- spinocerebellar ataxia type 2's genetic association is recorded as ATXN2[12].
- spinocerebellar ataxia type 2's Google Knowledge Graph ID is recorded as /g/11b6svh7bc[13].
- spinocerebellar ataxia type 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050955[14].
- spinocerebellar ataxia type 2's exact match is recorded as http://identifiers.org/doid/DOID:0050955[15].
- spinocerebellar ataxia type 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_98756[16].
- spinocerebellar ataxia type 2's UMLS CUI is recorded as C0752121[17].
- spinocerebellar ataxia type 2's UMLS CUI is recorded as C3149907[18].
- spinocerebellar ataxia type 2's ICD-10-CM is recorded as G11.2[19].
- spinocerebellar ataxia type 2's GARD rare disease ID is recorded as 4072[20].
- spinocerebellar ataxia type 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].
- spinocerebellar ataxia type 2's Mondo ID is recorded as MONDO_0008458[22].
- spinocerebellar ataxia type 2's Genetics Home Reference Conditions ID is recorded as spinocerebellar-ataxia-type-2[23].
- spinocerebellar ataxia type 2's UniProt disease ID is recorded as DI-01067[24].