Minicore Myopathy with External Ophthalmoplegia

Preferred Label : Minicore Myopathy with External Ophthalmoplegia;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as minicores on ATPase staining as a result of focal defects in oxidative activity.;

Details

Origin ID

C150608;

UMLS CUI

C1850674;

Currated CISMeF NLP mapping
- Congenital multi-minicore disease with external ophthalmoplegia [ICD-11 More detail]
- Congenital multi-minicore disease with external ophthalmoplegia (disorder) [SNOMED CT concept]
- Congenital multicore myopathy with external ophthalmoplegia [ORDO Disease]
- Congenital myopathy 1b, autosomal recessive [OMIM Phenotype]
- Minicore myopathy [HPO term]
- minicore myopathy with external ophthalmoplegia [MeSH concept]
- minicore myopathy with external ophthalmoplegia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital multi-minicore disease with external ophthalmoplegia [ICD-11 More detail]
- Congenital multicore myopathy with external ophthalmoplegia [ORDO Disease]
- Congenital myopathy 1b, autosomal recessive [OMIM Phenotype]
- Minicore myopathy [HPO term]
- minicore myopathy with external ophthalmoplegia [MeSH Supplementary Concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- RYR1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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