FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term centronuclear myopathy 6 with fiber-type disproportion ID (Ontology) DOID:0111221 (Human Disease)
Definition An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1.
Also Known As "CNM6"
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 Genes
 centronuclear myopathy 6 with fiber-type disproportion       2
 for disease ribbon | centronuclear myopathy 6 with fiber-type disproportion       2
 model of | centronuclear myopathy 6 with fiber-type disproportion       2
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autosomal recessive disease__
centronuclear myopathy_______|
                             autosomal recessive centronuclear myopathy
                              |__centronuclear myopathy 6 with fiber-type disproportion  2 rec.
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Is a autosomal recessive centronuclear myopathy
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Synonyms
  • "CNM6" EXACT OMO:0003012
Secondary IDs
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MIM:617760