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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: ATAXIA NEUROPATHY SPECTRUM DISORDERS;   EPM5;   MIRAS;   SANDO;   ataxia neuropathy spectrum;   autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions;   mitochondrial recessive ataxia syndrome;   progressive myoclonic epilepsy 5;   sensory ataxia neuropathy, dysarthria and ophthalmoplegia
 narrow_synonym: ATAXIA WITH DYSARTHRIA;   EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY;   SCAE
 primary_id: MESH:C537583
 alt_id: MESH:C579922;   MIM:607459;   OMIA:001467
 xref: ORDO:70595


show annotations for term's descendants           Sort by:
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 3:28,642,660...28,662,689
Ensembl chr 3:8,244,639...8,264,537 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO DNA:missense mutations:cds:
DNA:missense mutations:cds:p.A467T,p.W748S,p.T251I,p.G848S(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Recessive mitochondrial ataxia syndrome | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 OMIM
CTD
ClinVar
RGD		 PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... RGD:8694282, RGD:8694285 NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567 		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 Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 ClinVar PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More... NCBI chr 4:126,426,767...126,771,986
Ensembl chr 4:124,869,552...125,214,824 		JBrowse link
G Twnk twinkle mtDNA helicase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 CTD
ClinVar		 PMID:15668446 PMID:17614277 PMID:20301746 PMID:20479361 PMID:20659899 More... NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        mitochondrial metabolism disease 820
          sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 6
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            disease of mental health 8463
              developmental disorder of mental health 5654
                specific developmental disorder 4621
                  communication disorder 419
                    language disorder 171
                      speech disorder 85
                        articulation disorder 23
                          Dysarthria 18
                            sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 6
paths to the root