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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 Hereditary Ataxia;   Friedreich Hereditary Spinal Ataxia;   Friedreich ataxias;   Friedreich disease;   Friedreich familial ataxia;   Friedreich spinocerebellar ataxia;   Friedreich's Ataxia;   Friedreich's Disease;   Friedreich's Familial Ataxia;   Friedreich's Hereditary Ataxia;   Friedreich's hereditary ataxias;   Friedreich's hereditary spinal ataxia;   Friedreich's tabes;   Friedreichs Familial Ataxia;   Friedreichs Hereditary Ataxia;   hereditary spinal scleroses;   hereditary spinal sclerosis
 primary_id: MESH:D005621
 xref: GARD:6468;   ICD10CM:G11.11;   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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a ISO DNA:SNP: :rs5186(human) RGD PMID:21771600 RGD:401717567 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Fxn frataxin treatment
onset		 ISO
ISS		 DNA:point mutation:exon:p.G130V
DNA:repeat:intron:GAA (human)
CTD Direct Evidence: marker/mechanism
DNA:repeat,deletion:intron,exon:GAA(human)
ClinVar Annotator: match by term: Friedreich ataxia		 CTD
MouseDO
ClinVar
RGD		 PMID:8596916 PMID:8751856 PMID:9090376 PMID:9150176 PMID:9700204 More... RGD:1598961, RGD:1582636, RGD:401717566, RGD:401793707, RGD:401793708, RGD:401793711, RGD:401793713 NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540 		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
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth-like disease ClinVar PMID:25741868 PMID:31673878 NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540 		JBrowse link
Friedreich ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin ISO ClinVar Annotator: match by term: FXN-related disorder | ClinVar Annotator: match by term: Friedreich ataxia 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8596916 PMID:8751856 PMID:9090376 PMID:9700204 PMID:9737785 More... NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    Nutritional and Metabolic Diseases 8518
      disease of metabolism 8518
        mitochondrial metabolism disease 818
          Friedreich ataxia 3
            Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 1
            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 19055
    disease of anatomical entity 18391
      nervous system disease 14264
        central nervous system disease 12592
          brain disease 11818
            movement disease 2625
              Dyskinesias 2227
                Ataxia 951
                  hereditary ataxia 629
                    cerebellar ataxia 479
                      autosomal recessive cerebellar ataxia 166
                        Friedreich ataxia 3
                          Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 1
                          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