FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term myofibrillar myopathy 8 ID (Ontology) DOID:0080308 (Human Disease)
Definition A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12.
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 myofibrillar myopathy 8       1
 for disease ribbon | myofibrillar myopathy 8       1
 model of | myofibrillar myopathy 8       1
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autosomal genetic disease
 |__autosomal recessive disease__
myopathy                         |
 |__myofibrillar myopathy________|
                                 myofibrillar myopathy 8  1 rec.
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Is a autosomal recessive disease
myofibrillar myopathy
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MIM:617258