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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
cerebellar ataxia type 41  
cerebellar ataxia type 42  
cerebellar ataxia type 43  
cerebellar ataxia type 47  
cerebellar ataxia type 48  
cerebellar ataxia type 9 
dentatorubral-pallidoluysian atrophy  
GRID2-related spinocerebellar ataxia 
hypomyelinating leukoencephalopathy 
Machado-Joseph disease  
nonprogressive cerebellar ataxia with mental retardation  
Spinocerebellar Ataxia 32 
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits  
spinocerebellar ataxia 44  
spinocerebellar ataxia 45  
spinocerebellar ataxia 46  
Spinocerebellar Ataxia 49  
Spinocerebellar Ataxia 50  
spinocerebellar ataxia type 1  
spinocerebellar ataxia type 10  
spinocerebellar ataxia type 11  
spinocerebellar ataxia type 12  
spinocerebellar ataxia type 13  
spinocerebellar ataxia type 14  
spinocerebellar ataxia type 15  
spinocerebellar ataxia type 17  
spinocerebellar ataxia type 18 
spinocerebellar ataxia type 19/22  
spinocerebellar ataxia type 2  
spinocerebellar ataxia type 20 
spinocerebellar ataxia type 21  
spinocerebellar ataxia type 23  
spinocerebellar ataxia type 25  
spinocerebellar ataxia type 26  
spinocerebellar ataxia type 27 +   
spinocerebellar ataxia type 28  
spinocerebellar ataxia type 29  
spinocerebellar ataxia type 30 
spinocerebellar ataxia type 31  
spinocerebellar ataxia type 34  
spinocerebellar ataxia type 35  
spinocerebellar ataxia type 36  
spinocerebellar ataxia type 37  
spinocerebellar ataxia type 38  
spinocerebellar ataxia type 4  
spinocerebellar ataxia type 40  
spinocerebellar ataxia type 5  
An 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. (DO)
spinocerebellar ataxia type 6  
spinocerebellar ataxia type 7  
spinocerebellar ataxia type 8  

Synonyms
Exact Synonyms: SCA5 ;   spinocerebellar ataxia 5
Broad Synonyms: SPTBN2-RELATED CONDITION
Primary IDs: OMIM:600224
Xrefs: GARD:4953
Definition Sources: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20368622 "DO" "DO"

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