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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Friedreich ataxia
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Accession:DOID:12705 term browser browse the term
Definition: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)
Synonyms:exact_synonym: 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_id: MESH:D005621
 xref: GARD:6468;   ICD9CM:334.0;   NCI:C84718
For additional species annotation, visit the Alliance of Genome Resources.


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Friedreich ataxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO DNA:point mutation:exon:p.G130V
DNA:repeat:intron:GAA (human)
ClinVar Annotator: match by synonym: Friedreich's ataxia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Friedreich's ataxia
ClinVar
CTD
PMID:8596916, PMID:9150176, PMID:9700204, PMID:9737785, PMID:9989622, PMID:10543403, PMID:10732799, PMID:11020385, PMID:11030757, PMID:11843702, PMID:12019217, PMID:12923074, PMID:16120311, PMID:16239244, PMID:16911956, PMID:17101455, PMID:17331979, PMID:17703324, PMID:18537827, PMID:19494730, PMID:19629184, PMID:20098685, PMID:21298097, PMID:22016819, PMID:23418481, PMID:26339677, PMID:26467025, PMID:26704351, PMID:26954031, PMID:28812047, PMID:29272104, PMID:30451920, PMID:10543403, PMID:8596916 RGD:1598961, RGD:1582636 NCBI chr 1:242,123,975...242,152,834
Ensembl chr 1:242,123,975...242,152,834
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:missense mutation:cds:m.3696C>T (human) RGD PMID:18807169 RGD:5490251 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
Friedreich ataxia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO ClinVar Annotator: match by term: Friedreich ataxia 1 OMIM
ClinVar
PMID:26467025 NCBI chr 1:242,123,975...242,152,834
Ensembl chr 1:242,123,975...242,152,834
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        mitochondrial metabolism disease 345
          Friedreich ataxia 2
            Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 0
            Friedreich Ataxia Congenital Glaucoma 0
            Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 0
            Friedreich ataxia 1 + 1
            Friedreich ataxia 2 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            movement disease 1158
              Dyskinesias 869
                Ataxia 395
                  hereditary ataxia 281
                    cerebellar ataxia 247
                      autosomal recessive cerebellar ataxia 70
                        Friedreich ataxia 2
                          Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 0
                          Friedreich Ataxia Congenital Glaucoma 0
                          Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 0
                          Friedreich ataxia 1 + 1
                          Friedreich ataxia 2 0
paths to the root

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