FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term nemaline myopathy 11 ID (Ontology) DOID:0110933 (Human Disease)
Definition A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21.
Also Known As "congenital myopathy 24" ; "NEM11" ; "nemaline myopathy 11, autosomal recessive"
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autosomal genetic disease
 |__autosomal recessive disease__
congenital myopathy              |
 |__nemaline myopathy____________|
                                 nemaline myopathy 11
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Is a autosomal recessive disease
nemaline myopathy
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Synonyms
  • "congenital myopathy 24" EXACT
    "NEM11" EXACT OMO:0003012
    "nemaline myopathy 11, autosomal recessive" EXACT
Secondary IDs
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MIM:617336