FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term reducing body myopathy 1B ID (Ontology) DOID:0080687 (Human Disease)
Definition A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.
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Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 reducing body myopathy 1B       1      5
 for disease ribbon | reducing body myopathy 1B       --       4
 model of | reducing body myopathy 1B       1      4
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monogenic disease
 |__X-linked monogenic disease__
muscle tissue disease           |
 |__myopathy____________________|
                                reducing body myopathy 1B  6 rec.
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Is a X-linked monogenic disease
myopathy
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MIM:300718