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Ontology Browser

Term:
autosomal recessive spinocerebellar ataxia 2 (DOID:0080061)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
ataxia telangiectasia +   
ataxia with oculomotor apraxia type 1  
ataxia with oculomotor apraxia type 2  
ataxia with oculomotor apraxia type 3  
Ataxia with Oculomotor Apraxia Type 4  
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  
An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. (DO)
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 29  
autosomal recessive spinocerebellar ataxia 3 
Autosomal Recessive Spinocerebellar Ataxia 30  
Autosomal Recessive Spinocerebellar Ataxia 31  
Autosomal Recessive Spinocerebellar Ataxia 32  
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 +   
Cayman type cerebellar ataxia  
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
Charlevoix-Saguenay spastic ataxia  
Corneal Cerebellar Syndrome 
Friedreich ataxia +   
Galloway-Mowat syndrome +   
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Hereditary Spinal Ataxia 
infantile cerebellar-retinal degeneration  
Marinesco-Sjogren syndrome  
mitochondrial DNA depletion syndrome 7  
Mousa Al din Al Nassar Syndrome 
myoclonic cerebellar dyssynergia +  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
olivopontocerebellar atrophy +   
Posterior Column Ataxia 
primary coenzyme Q10 deficiency 4  
Spinocerebellar Ataxias +   

Synonyms
Exact Synonyms: CPD III ;   CPD3 ;   Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital ;   Cerebellar Hypoplasia, Nonprogressive Norman Type ;   Cerebelloparenchymal Disorder III ;   SCAR2
Primary IDs: MESH:C565865 ;   RDO:0014396
Alternate IDs: OMIM:213200
Definition Sources: https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia "DO" "DO", https://www.omim.org/entry/606002 "DO" "DO"

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