Centronuclear Myopathy 1

Preferred Label : Centronuclear Myopathy 1;

NCIt synonyms : CNM1;

NCIt definition : A myopathy inherited in an autosomal dominant or recessive pattern, caused by mutations in the DNM2, BIN1, and TTN genes. Microscopically there is central displacement of the nucleus in muscle cells. It is characterized by muscle weakness and atrophy in the skeletal muscles.;

Details

Origin ID

C126689;

UMLS CUI

C4551952;

Currated CISMeF NLP mapping
- Autosomal dominant centronuclear myopathy [ORDO Disease]
- Autosomal dominant centronuclear myopathy (disorder) [SNOMED CT concept]
- Myopathy, Centronuclear, 1 [MeSH concept]
- Myopathy, centronuclear, 1 [OMIM Phenotype]
- centronuclear myopathy 1 [DO Concept]
- myopathy, centronuclear, autosomal dominant [MeSH concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myopathy, centronuclear, 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- myopathies, structural, congenital [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
related_to_genetic_biomarker
- BIN1 Gene [NCIt concept]
- DNM2 Gene [NCIt concept]
- TTN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients