Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
spinocerebellar ataxia type 27 (DOID:0050976)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
dentatorubral-pallidoluysian atrophy  
GRID2-related spinocerebellar ataxia 
hypomyelinating leukoencephalopathy 
Machado-Joseph disease +   
Spinocerebellar Ataxia 32 
Spinocerebellar Ataxia 41  
Spinocerebellar Ataxia 42  
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits  
Spinocerebellar Ataxia 43  
spinocerebellar ataxia 44  
spinocerebellar ataxia 45  
spinocerebellar ataxia 46  
Spinocerebellar Ataxia 47  
Spinocerebellar Ataxia 48  
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  
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in mutation in the FGF14 gene. (DO)
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  
spinocerebellar ataxia type 6  
spinocerebellar ataxia type 7  
spinocerebellar ataxia type 8  

Synonyms
Exact Synonyms: SCA27 ;   Spinocerebellar Ataxia 27 ;   autosomal dominant cerebellar ataxia, FGF14-related
Primary IDs: MESH:C537204
Alternate IDs: OMIM:609307 ;   RDO:0002993
Definition Sources: https://rarediseases.info.nih.gov/diseases/9963/spinocerebellar-ataxia-27

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.