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Ontology Browser

Term:
autosomal recessive spinocerebellar ataxia 4 (DOID:0111611)
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  
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  
An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in VPS13D on chromosome 1p36.22-p36.21. (DO)
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 +   
Charlevoix-Saguenay spastic ataxia  
Friedreich ataxia +   
Marinesco-Sjogren syndrome  
mitochondrial DNA depletion syndrome 7  
primary coenzyme Q10 deficiency 4  

Synonyms
Exact Synonyms: SCA24 ;   SCAR4 ;   SCASI ;   autosomal recessive cerebellar ataxia-saccadic intrusion syndrome ;   spinocerebellar ataxia 24 ;   spinocerebellar ataxia with saccadic intrusions
Primary IDs: MESH:C537310
Alternate IDs: OMIM:607317
Xrefs: GARD:4952 ;   ORDO:95434
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/29604224 "DO" "DO"

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