MCID: MNC011

Minicore Myopathy with External Ophthalmoplegia malady

Summaries for Minicore Myopathy with External Ophthalmoplegia

Sources:
33OMIM, 22MalaCards
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MalaCards: Minicore Myopathy with External Ophthalmoplegia, also known as minicore myopathy with external ophthalmoplegia (disorder), is related to multiminicore disease and minicore myopathy, antenatal onset, with arthrogryposis. An important gene associated with Minicore Myopathy with External Ophthalmoplegia is RYR1 (ryanodine receptor 1 (skeletal)).

OMIM: 255320

Aliases & Descriptions for Minicore Myopathy with External Ophthalmoplegia

Sources:
30NIH Rare Diseases, 33OMIM, 43UMLS
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minicore myopathy with external ophthalmoplegia 30 33
minicore myopathy with external ophthalmoplegia (disorder) 43
multiminicore disease with external ophthalmoplegia 30
multicore myopathy with external ophthalmoplegia 30

Related Diseases for Minicore Myopathy with External Ophthalmoplegia

Sources:
13GeneCards, 14GeneDecks
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Diseases related to minicore myopathy with external ophthalmoplegia by text searches and GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1multiminicore disease8.6
2minicore myopathy, antenatal onset, with arthrogryposis8.6

Clinical Features for Minicore Myopathy with External Ophthalmoplegia

Sources:
33OMIM
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Clinical features from OMIM: 255320

Drugs & Therapeutics for Minicore Myopathy with External Ophthalmoplegia

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for minicore myopathy with external ophthalmoplegia

Search CenterWatch for minicore myopathy with external ophthalmoplegia

Genetic Tests for Minicore Myopathy with External Ophthalmoplegia

Anatomical Context for Minicore Myopathy with External Ophthalmoplegia

Phenotypes for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

Publications for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

Expression for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

Pathways for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

Compounds for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

GO Terms for genes affiliated with Minicore Myopathy with External Ophthalmoplegia

Sources for Minicore Myopathy with External Ophthalmoplegia

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS