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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:Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive
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Accession:DOID:9005815 term browser browse the term
Synonyms:exact_synonym: Progressive External Ophthalmoplegia, Autosomal Recessive
 narrow_synonym: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
 xref: MESH:C564926


show annotations for term's descendants           Sort by:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic 		CTD
ClinVar		 PMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 More... NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12707443 PMID:12872260 PMID:18575922 PMID:18973250 PMID:19084593 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:253,817,564...253,824,162 		JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:142,736,653...142,792,999 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr18:51,499,670...51,703,976
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ClinVar PMID:10199405 PMID:11574484 PMID:25326637 PMID:25741868 PMID:25980754 More... NCBI chr12:15,790,478...15,814,790
Ensembl chr12:15,790,478...15,815,248 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 OMIM
ClinVar		 PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:141,106,668...141,156,477 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh1 ribonuclease H1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | ClinVar Annotator: match by term: RNASEH1-related condition OMIM
ClinVar		 PMID:21270786 PMID:25741868 PMID:26094573 PMID:27981572 PMID:28492532 More... NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:51,011,234...51,020,627 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | ClinVar Annotator: match by term: TK2-related condition OMIM
ClinVar		 PMID:1734306 PMID:12391347 PMID:12655576 PMID:12682338 PMID:12873860 More... NCBI chr19:708,859...731,786
Ensembl chr19:715,318...738,355 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 OMIM
ClinVar		 PMID:9536098 PMID:11983456 PMID:12205643 PMID:14568816 PMID:14623087 More... NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:117,544,773...117,572,414 		JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 OMIM
ClinVar		 PMID:24509834 PMID:25741868 PMID:28492532 PMID:29290614 PMID:30057030 More... NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,915,625...45,956,856 		JBrowse link
Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | ClinVar Annotator: match by term: RRM1-related disorder OMIM
ClinVar		 PMID:25741868 PMID:35617047 NCBI chr 1:166,235,904...166,260,206
Ensembl chr 1:166,235,900...166,260,944 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      eye disease 3565
        ocular motility disease 258
          ophthalmoplegia 86
            chronic progressive external ophthalmoplegia 30
              Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 11
                Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6 1
                autosomal recessive progressive external ophthalmoplegia 1 5
                autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1
                autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
                autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 1
                autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                muscle tissue disease 1363
                  myopathy 1058
                    mitochondrial myopathy 99
                      chronic progressive external ophthalmoplegia 30
                        Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 11
                          Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6 1
                          autosomal recessive progressive external ophthalmoplegia 1 5
                          autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1
                          autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
                          autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 1
                          autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1
paths to the root