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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:Minicore Myopathy with External Ophthalmoplegia
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Accession:DOID:9004586 term browser browse the term
Synonyms:exact_synonym: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA;   Minicore Disease;   Minicore Myopathy;   Multi-Minicore Disease;   Multicore Disease;   Multicore Myopathy;   Multicore Myopathy With External Ophthalmoplegia;   Multiminicore Disease;   Multiminicore Disease With External Ophthalmoplegia;   Multiminicore Myopathy
 primary_id: MESH:C564969;   RDO:0013747
 alt_id: OMIM:255320
For additional species annotation, visit the Alliance of Genome Resources.


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Minicore Myopathy with External Ophthalmoplegia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868, PMID:30770808 NCBI chr 2:120,529,716...120,570,356
Ensembl chr 2:120,512,899...120,570,355
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by OMIM:255320
ClinVar Annotator: match by term: Multiminicore Disease
ClinVar Annotator: match by term: Multiminicore myopathy
ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
OMIM
ClinVar
PMID:16940, PMID:18253, PMID:1743490, PMID:4149045, PMID:7299413, PMID:8661021, PMID:9199552, PMID:9497245, PMID:10097181, PMID:10484775, PMID:11274444, PMID:11575529, PMID:11668625, PMID:11709545, PMID:11741831, PMID:12059893, PMID:12123492, PMID:12136074, PMID:12208234, PMID:12411786, PMID:12411788, PMID:12434264, PMID:12642598, PMID:12709367, PMID:12719381, PMID:14732627, PMID:15175001, PMID:15210166, PMID:15221887, PMID:15448513, PMID:15731587, PMID:16084090, PMID:16163667, PMID:16244001, PMID:16272262, PMID:16372898, PMID:16380615, PMID:16621918, PMID:16732084, PMID:16835904, PMID:16917943, PMID:16940308, PMID:17033962, PMID:17081152, PMID:17226826, PMID:17365175, PMID:17483490, PMID:17710899, PMID:18171678, PMID:18253926, PMID:18414213, PMID:18564801, PMID:18719443, PMID:18765655, PMID:19191329, PMID:19191333, PMID:19223216, PMID:19346234, PMID:19513315, PMID:19648156, PMID:19807743, PMID:19825159, PMID:19931341, PMID:20080402, PMID:20142353, PMID:20583297, PMID:20681998, PMID:20839240, PMID:20888934, PMID:20981092, PMID:21062345, PMID:21157159, PMID:21455645, PMID:21514828, PMID:21674524, PMID:21795085, PMID:21825032, PMID:21911697, PMID:21965348, PMID:22203976, PMID:22415532, PMID:22473935, PMID:22705209, PMID:22734812, PMID:22913516, PMID:22992668, PMID:22995991, PMID:23035052, PMID:23204524, PMID:23329375, PMID:23394784, PMID:23460944, PMID:23476141, PMID:23553484, PMID:23553787, PMID:23558838, PMID:23628358, PMID:23826317, PMID:23919265, PMID:24013571, PMID:24033266, PMID:24055113, PMID:24088041, PMID:24195946, PMID:24215330, PMID:24361844, PMID:24433488, PMID:24561095, PMID:24950660, PMID:24951453, PMID:25084811, PMID:25214167, PMID:25256590, PMID:25326635, PMID:25461839, PMID:25466363, PMID:25476234, PMID:25637381, PMID:25658027, PMID:25735680, PMID:25741868, PMID:25747005, PMID:25957634, PMID:25958340, PMID:25960145, PMID:25985138, PMID:25989378, PMID:26332594, PMID:26467025, PMID:26633545, PMID:26841830, PMID:27005958, PMID:27066551, PMID:27147545, PMID:27153395, PMID:27382027, PMID:27555149, PMID:27663056, PMID:27857962, PMID:28224104, PMID:28259615, PMID:28326467, PMID:28357410, PMID:28403410, PMID:28492532, PMID:28527222, PMID:28687594, PMID:28818389, PMID:29169929, PMID:29172004, PMID:29178655, PMID:29382405, PMID:29635721, PMID:30122538, PMID:30155738, PMID:30236257, PMID:30311386, PMID:30325262, PMID:30611313, PMID:30724636, PMID:30788618, PMID:31055738, PMID:31135626 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      congenital structural myopathy 139
        Minicore Myopathy with External Ophthalmoplegia 2
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
                    congenital structural myopathy 139
                      Minicore Myopathy with External Ophthalmoplegia 2
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.