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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:chronic progressive external ophthalmoplegia
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Accession:DOID:12558 term browser browse the term
Definition:A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)
Synonyms:exact_synonym: CPEO;   Graefe Disease;   Graefe's Disease;   Mitochondrial Ocular Myopathy;   Ocular Muscular Dystrophies;   Ocular Muscular Dystrophy;   Ocular Myopathy of Von Graefe Fuchs;   Progressive external ophthalmoplegia;   chronic progressive external ophthalmoplegia with myopathy, somatic;   progressive external ophthalmoplegia with mitochondrial DNA deletions
 narrow_synonym: Progressive external ophthalmoplegia, proximal myopathy, and sudden death
 primary_id: MESH:D017246
 alt_id: RDO:0005927
 xref: GARD:4503;   ICD10CM:H49.4;   ICD9CM:378.72;   OMIM:PS157640
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
chronic progressive external ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:21555342, PMID:25741868, PMID:28492532 NCBI chr10:94,944,243...94,961,795
Ensembl chr10:94,944,436...94,961,791
JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Chronic progressive external ophthalmoplegia ClinVar PMID:10844060, PMID:29887215 NCBI chr 7:49,729,533...49,732,974
Ensembl chr 7:49,729,533...49,732,764
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human)
DNA:mutations:cds:
DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
CTD PMID:17923349, PMID:11431686, PMID:17420318, PMID:16401742, PMID:12565911, PMID:12975295 RGD:737726, RGD:8694204, RGD:8694183, RGD:8694170, RGD:8694163 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:21555342, PMID:25741868, PMID:28492532 NCBI chr10:94,968,836...94,979,259
Ensembl chr10:94,968,836...94,979,259
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar PMID:21646632, PMID:21951382 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:12565915, PMID:15792871 RGD:1580622, RGD:1580620 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800, PMID:14680979 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Twnk twinkle mtDNA helicase susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Progressive external ophthalmoplegia
ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
ClinVar PMID:16639411, PMID:17272269, PMID:17620490, PMID:18279890, PMID:18971204, PMID:19513767, PMID:20479361, PMID:20659899, PMID:20880070, PMID:25741868, PMID:26467025, PMID:28812649, PMID:11431692 RGD:1600544 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers 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 DOMINANT 1 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: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
ClinVar Annotator: match by OMIM:157640
OMIM
ClinVar
PMID:632821, PMID:2067633, PMID:2725645, PMID:11431686, PMID:11571332, PMID:11897778, PMID:12073019, PMID:12210792, PMID:12565911, PMID:12872260, PMID:14467368, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15534189, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16929381, PMID:16940310, PMID:16943369, PMID:17088268, PMID:17420318, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19629138, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20220442, PMID:20227526, PMID:20301791, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20981092, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22006280, PMID:22189570, PMID:22237560, 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:23250882, PMID:23251356, PMID:23299917, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23545419, PMID:23783014, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25488682, PMID:25585994, PMID:25741868, PMID:25850945, PMID:26095671, PMID:26104464, PMID:26357557, PMID:26467025, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:26968897, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28837072, PMID:28901595, PMID:29029963, PMID:29190809, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:29992832, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
ClinVar Annotator: match by OMIM:609283
OMIM
ClinVar
PMID:8644740, PMID:10364542, PMID:10926541, PMID:11756613, PMID:12112115, PMID:25741868, PMID:28492532 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by OMIM:609286
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
ClinVar
OMIM
PMID:1634620, PMID:10522883, PMID:11431692, PMID:12163192, PMID:15668446, PMID:17614277, PMID:19353676, PMID:19513767, PMID:20479361, PMID:20659899, PMID:21689831, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:28812649, PMID:29458409 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar PMID:16685652, PMID:21555342, PMID:22155748, PMID:22176657, PMID:23197651, PMID:23596069, PMID:24033266, PMID:25741868, PMID:26123486, PMID:26251896, PMID:27535533 NCBI chr10:94,944,243...94,961,795
Ensembl chr10:94,944,436...94,961,791
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
ClinVar Annotator: match by OMIM:610131
OMIM
ClinVar
PMID:16685652, PMID:21555342, PMID:22155748, PMID:22176657, PMID:23197651, PMID:23596069, PMID:24033266, PMID:25741868, PMID:26123486, PMID:26251896, PMID:27535533, PMID:28492532 NCBI chr10:94,968,836...94,979,259
Ensembl chr10:94,968,836...94,979,259
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
ClinVar Annotator: match by OMIM:613077
OMIM
ClinVar
PMID:19664747, PMID:21646632, PMID:26467025, PMID:28492532, PMID:28812649 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers 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 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: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 OMIM
ClinVar
PMID:632821, PMID:11431686, PMID:11571332, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16940310, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, 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:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22006280, 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:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23665194, 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:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25585994, PMID:25660390, PMID:25741868, PMID:25940035, PMID:26095671, PMID:26104464, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27538604, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28284481, PMID:28337550, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:29029963, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers 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
OMIM
PMID:26094573 NCBI chr 6:47,916,188...47,925,582
Ensembl chr 6:47,916,188...47,925,571
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 ClinVar
OMIM
PMID:15907288, PMID:21937588, PMID:25326635, PMID:25741868 NCBI chr19:917,203...939,236
Ensembl chr19:917,203...939,221
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by OMIM:617070
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
ClinVar
OMIM
PMID:11983456, PMID:16908739, PMID:17073823, PMID:17452231, PMID:18205204, PMID:23043144, PMID:25741868, PMID:26874653 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers 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 WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 ClinVar
OMIM
PMID:25741868, PMID:29290614 NCBI chr10:46,980,646...47,018,728
Ensembl chr10:46,981,958...47,018,537
JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia 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: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821, PMID:11431686, PMID:11571332, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:12975295, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16919951, PMID:16940310, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, 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:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20601675, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20883824, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21550804, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22000311, PMID:22006280, 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:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23665194, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24288107, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25585994, PMID:25660390, PMID:25741868, PMID:25914719, PMID:25940035, PMID:26095671, PMID:26104464, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27538604, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28284481, PMID:28337550, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:29029963, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:39,892,792...39,923,735
Ensembl chr 8:39,892,792...39,907,478
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 OMIM
ClinVar
PMID:15105459, PMID:16525029, PMID:18829051, PMID:19633821, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 8:39,892,792...39,923,735
Ensembl chr 8:39,892,792...39,907,478
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2 ClinVar
OMIM
PMID:28250456 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
Kearns-Sayre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Tfam transcription factor A, mitochondrial ISS OMIM:530000 MouseDO NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Autosomal Recessive Progressive External Ophthalmoplegia 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: Autosomal Recessive Progressive External Ophthalmoplegia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
ClinVar
CTD
PMID:632821, PMID:11431686, PMID:11571332, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16940310, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, 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:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22006280, 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:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23665194, 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:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25585994, PMID:25660390, PMID:25741868, PMID:25940035, PMID:26095671, PMID:26104464, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27538604, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28284481, PMID:28337550, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:29029963, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12872260, PMID:28812649 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 16103
    sensory system disease 5162
      eye disease 2592
        ocular motility disease 172
          ophthalmoplegia 62
            chronic progressive external ophthalmoplegia 27
              CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 2
              Familial Horizontal Gaze Palsy with Progressive Scoliosis + 2
              Kearns-Sayre syndrome 11
              Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive + 7
              Progressive External Ophthalmoplegia with Myoclonus 0
              autosomal dominant progressive external ophthalmoplegia 1 3
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 2
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 0
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    mitochondrial myopathy 89
                      chronic progressive external ophthalmoplegia 27
                        CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 2
                        Familial Horizontal Gaze Palsy with Progressive Scoliosis + 2
                        Kearns-Sayre syndrome 11
                        Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive + 7
                        Progressive External Ophthalmoplegia with Myoclonus 0
                        autosomal dominant progressive external ophthalmoplegia 1 3
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 2
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 0
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.