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RGD uses the Human Disease Ontology (DO, 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: Minicore Myopathy;   Multi-Minicore Disease;   Multicore Disease;   Multicore Myopathy;   Multicore Myopathy With External Ophthalmoplegia;   Multiminicore Disease;   Multiminicore Disease With External Ophthalmoplegia;   minicore disease;   multiminicore myopathy
 primary_id: MESH:C564969
 alt_id: OMIM:255320
 xref: NCI:C150608
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 disease with external ophthalmoplegia
PMID:16940 PMID:18253 PMID:1743490 PMID:7299413 PMID:9497245 PMID:9536098 PMID:10097181 PMID:10484775 PMID:10888602 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:17538032 PMID:17576681 PMID:17710899 PMID:18171678 PMID:18253926 PMID:18414213 PMID:18564801 PMID:18719443 PMID:19191329 PMID:19191333 PMID:19223216 PMID:19346234 PMID:19513315 PMID:19645060 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:23069638 PMID:23183335 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:24091937 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:25683120 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:28166811 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:30325262 PMID:30611313 PMID:30724636 PMID:30788618 PMID:31055738 PMID:31135626 PMID:31559918 PMID:31680349 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Multiminicore Disease ClinVar PMID:25741868 NCBI chr 3:63,565,160...63,837,815 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    physical disorder 2960
      congenital structural myopathy 156
        Minicore Myopathy with External Ophthalmoplegia 3
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        peripheral nervous system disease 2431
          neuropathy 2235
            neuromuscular disease 1779
              muscular disease 1190
                muscle tissue disease 813
                  myopathy 649
                    congenital structural myopathy 156
                      Minicore Myopathy with External Ophthalmoplegia 3
paths to the root