Myofibrillar Myopathy 1 - CISMeF

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CISMeF

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Myofibrillar Myopathy 1NCIt concept

Preferred Label : Myofibrillar Myopathy 1;

NCIt synonyms : MFM1;

NCIt definition : A subtype of myofibrillar myopathy caused by mutations in the DES gene, encoding desmin.;

Details

Origin ID

C206515;

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
- DES Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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20/06/2025

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