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

Ontology Browser

Term:
ataxia with oculomotor apraxia type 2 (DOID:0050755)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
ataxia telangiectasia +   
ataxia with oculomotor apraxia type 1  
ataxia with oculomotor apraxia type 2  
An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34. (DO)
ataxia with oculomotor apraxia type 3  
autosomal recessive spinocerebellar ataxia 10  
autosomal recessive spinocerebellar ataxia 11  
autosomal recessive spinocerebellar ataxia 12  
autosomal recessive spinocerebellar ataxia 13  
autosomal recessive spinocerebellar ataxia 14  
autosomal recessive spinocerebellar ataxia 15  
autosomal recessive spinocerebellar ataxia 16  
autosomal recessive spinocerebellar ataxia 17  
autosomal recessive spinocerebellar ataxia 18  
autosomal recessive spinocerebellar ataxia 19  
autosomal recessive spinocerebellar ataxia 2  
autosomal recessive spinocerebellar ataxia 20  
autosomal recessive spinocerebellar ataxia 21  
autosomal recessive spinocerebellar ataxia 22  
autosomal recessive spinocerebellar ataxia 23  
autosomal recessive spinocerebellar ataxia 24  
autosomal recessive spinocerebellar ataxia 25  
autosomal recessive spinocerebellar ataxia 26  
autosomal recessive spinocerebellar ataxia 27  
Autosomal Recessive Spinocerebellar Ataxia 28  
autosomal recessive spinocerebellar ataxia 3 
autosomal recessive spinocerebellar ataxia 4  
autosomal recessive spinocerebellar ataxia 6 
autosomal recessive spinocerebellar ataxia 7  
autosomal recessive spinocerebellar ataxia 8  
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy +   
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3  
Cayman type cerebellar ataxia  
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Charlevoix-Saguenay spastic ataxia  
Friedreich ataxia +   
Marinesco-Sjogren syndrome  
mitochondrial DNA depletion syndrome 7  
primary coenzyme Q10 deficiency 4  
spinocerebellar ataxia type 1 with axonal neuropathy  

Synonyms
Exact Synonyms: AOA2 ;   Ataxia with Oculomotor Apraxia ;   Ataxia-oculomotor apraxia 2 ;   SCAN2 ;   SCAR1 ;   Spinocerebellar Ataxia, Autosomal Recessive 1 ;   ataxia-ocular apraxia 2 ;   autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 ;   recessive spinocerebellar ataxia, Non-Friedreich type 1 ;   spinocerebellar ataxia with axonal neuropathy type 2
Broad Synonyms: SETX-RELATED DISORDER ;   SETX-RELATED DISORDERS
Primary IDs: MESH:C537308
Alternate IDs: OMIM:606002 ;   RDO:0003128 ;   RDO:9004370
Xrefs: NCI:C165500
Definition Sources: https://www.ncbi.nlm.nih.gov/books/NBK1154/ "DO"

paths to the root