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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:sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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Accession:DOID:0111276 term browser browse the term
Definition:A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. (DO)
Synonyms:exact_synonym: EPM5;   Epilepsy, Progressive Myoclonic 5;   SANDO;   autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions
 narrow_synonym: ATAXIA WITH DYSARTHRIA;   EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY;   SCAE
 primary_id: MESH:C537583
 alt_id: OMIA:001467;   OMIM:607459;   RDO:0003449;   RDO:9000291
 xref: ORDO:70595
For additional species annotation, visit the Alliance of Genome Resources.


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sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Ataxia with Dysarthria ClinVar PMID:31047799 NCBI chr 3:2,648,787...2,668,770
Ensembl chr 3:2,648,885...2,668,809
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 5 ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 5
ClinVar Annotator: match by OMIM:607459
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.A467T,p.W748S,p.T251I,p.G848S(human)
OMIM
ClinVar
CTD
PMID:632821, PMID:11431686, PMID:11571332, PMID:12210792, PMID:12565911, PMID:12872260, PMID:14557557, PMID:14635118, PMID:14694057, PMID:14745080, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16080118, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16545482, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16940310, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17894835, PMID:17923349, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18294203, PMID:18321754, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19125351, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20153822, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20434700, PMID:20438629, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20837862, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21236670, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21455106, PMID:21515089, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21956653, PMID:21993618, PMID:22006280, PMID:22166854, PMID:22189570, PMID:22342071, PMID:22494076, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22863191, PMID:22931735, PMID:22987704, PMID:22995991, PMID:23084792, PMID:23212759, PMID:23248042, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24331360, PMID:24508722, PMID:24725338, PMID:24841123, PMID:25025039, PMID:25118206, PMID:25281868, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25585994, PMID:25713120, PMID:25741868, PMID:26077851, PMID:26095671, PMID:26104464, PMID:26357557, PMID:26467025, PMID:26557169, PMID:26607151, PMID:26735972, PMID:26755490, PMID:26942291, PMID:26942292, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27290639, PMID:27345795, PMID:27422324, PMID:27538665, PMID:27822509, PMID:27838477, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28206745, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28480171, PMID:28492532, PMID:28634151, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28837072, PMID:28865037, PMID:29029963, PMID:29272804, PMID:29341116, PMID:29358615, PMID:29423831, PMID:29474836, PMID:29482223, PMID:29574624, PMID:29588995, PMID:29712893, PMID:29920680, PMID:30021052, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307, PMID:22616202, PMID:18585914 RGD:8694285, RGD:8694282 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5
ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar PMID:21276947, PMID:23711981, PMID:24088041, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26633545, PMID:26942291, PMID:26942292, PMID:28492532, PMID:29358611 NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by OMIM:607459
ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 5
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15668446, PMID:17614277, PMID:20479361, PMID:20659899, PMID:21689831, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:29458409 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        mitochondrial metabolism disease 333
          sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 5
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              developmental disorder of mental health 3113
                specific developmental disorder 2287
                  communication disorder 291
                    language disorder 206
                      speech disorder 75
                        articulation disorder 33
                          Dysarthria 29
                            sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 5
paths to the root

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