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Ontology Browser

Term:
mitochondrial DNA depletion syndrome 7 (DOID:0080126)
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  
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 25  
autosomal recessive spinocerebellar ataxia 26  
Autosomal Recessive Spinocerebellar Ataxia 6 
autosomal recessive spinocerebellar ataxia 7  
Autosomal Recessive Spinocerebellar Ataxia 8  
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy +   
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Charlevoix-Saguenay spastic ataxia  
Friedreich ataxia +   
mitochondrial DNA depletion syndrome 7  
A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24. (DO)
primary coenzyme Q10 deficiency 4  

Synonyms
Exact Synonyms: IOSCA ;   MTDPS7 ;   OHAHA syndrome ;   infantile onset spinocerebellar ataxia ;   mitochondrial DNA depletion syndrome 7 (hepatocerebral type) ;   ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis ;   ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis ;   spinocerebellar ataxia infantile with sensory neuropathy
Related Synonyms: SCA8 (formerly) ;   spinocerebellar ataxia 8 (formerly)
Primary IDs: MESH:C535523
Alternate IDs: DOID:0050556 ;   OMIM:271245 ;   RDO:0000683 ;   RDO:0008489 ;   RDO:9004561
Xrefs: GARD:4062
Definition Sources: https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia, https://www.ncbi.nlm.nih.gov/pubmed/18775955, https://www.ncbi.nlm.nih.gov/pubmed/30391088

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