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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
Ataxia and Polyneuropathy, Adult-Onset  
Ataxia Neuropathy Spectrum  
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 +   
Bjornstad syndrome  
carbamoyl phosphate synthetase I deficiency disease  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
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  
Childhood Myocerebrohepatopathy Spectrum 
coenzyme Q10 deficiency disease +   
combined oxidative phosphorylation deficiency +   
Corneal Cerebellar Syndrome 
Cowden-Like Syndrome  
cytochrome-c oxidase deficiency disease +   
deafness-dystonia-optic neuronopathy syndrome  
Deoxyguanosine Kinase Deficiency  
early infantile epileptic encephalopathy 39  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
ethylmalonic encephalopathy  
Friedreich ataxia +   
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
Galloway-Mowat syndrome +   
GRACILE syndrome  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Hereditary Spinal Ataxia 
Hypermetabolism due to Defect in Mitochondria 
hypomyelinating leukodystrophy 4  
hypotonia-cystinuria syndrome  
infantile cerebellar-retinal degeneration  
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
Leigh disease +   
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Mitochondrial Cardiomyopathy  
mitochondrial complex I deficiency +   
mitochondrial complex II deficiency  
mitochondrial complex III deficiency +   
mitochondrial complex V (ATP synthase) deficiency +   
Mitochondrial Cytopathy +   
mitochondrial DNA depletion syndrome +   
mitochondrial DNA depletion syndrome 7  
Mitochondrial Phosphate Carrier Deficiency  
mitochondrial pyruvate carrier deficiency  
Mousa Al din Al Nassar Syndrome 
multiple acyl-CoA dehydrogenase deficiency +   
multiple mitochondrial dysfunctions syndrome +   
myoclonic cerebellar dyssynergia +  
Myopathy with Giant Abnormal Mitochondria 
Myopathy, Cataract, Hypogonadism Syndrome 
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
Noninsulin-Dependent Diabetes Mellitus with Deafness  
olivopontocerebellar atrophy +   
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
optic atrophy 1  
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
Posterior Column Ataxia 
primary coenzyme Q10 deficiency 4  
Progressive External Ophthalmoplegia with Hypogonadism 
Proximal Myopathy with Focal Depletion of Mitochondria 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Sarcosinemia  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Spinocerebellar Ataxia with Epilepsy  
Spinocerebellar Ataxia, Autosomal Recessive 3 
Spinocerebellar Ataxia, Autosomal Recessive 4  
Spinocerebellar Ataxia, X-Linked, 2 
Spinocerebellar Ataxia, X-Linked, 4 
Spinocerebellar Ataxias +   
Succinate-Coa Ligase Deficiency +   
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
Wolfram syndrome 2  

Synonyms
Exact Synonyms: Friedreich Familial Ataxia ;   Friedreich Hereditary Ataxia ;   Friedreich Hereditary Spinal Ataxia ;   Friedreich ataxias ;   Friedreich disease ;   Friedreich spinocerebellar ataxia ;   Friedreich's Ataxia ;   Friedreich's Disease ;   Friedreich's Familial Ataxia ;   Friedreich's Hereditary Ataxia ;   Friedreich's Hereditary Spinal Ataxia ;   Friedreich's hereditary ataxias ;   Friedreich's tabes ;   Friedreichs Familial Ataxia ;   Friedreichs Hereditary Ataxia ;   hereditary spinal scleroses ;   hereditary spinal sclerosis
Primary IDs: MESH:D005621
Xrefs: GARD:6468 ;   ICD9CM:334.0 ;   NCI:C84718
Definition Sources: MESH:D005621

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