Myofibrillar Myopathy 2

Preferred Label : Myofibrillar Myopathy 2;

NCIt synonyms : MFM2;

NCIt definition : An autosomal dominant subtype of myofibrillar myopathy caused by mutation(s) in the CRYAB gene, encoding alpha-crystallin B chain.;

Details

Origin ID

C206516;

Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- CRYAB Gene [NCIt concept]

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