FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term congenital myopathy 20 ID (Ontology) DOID:0081352 (Human Disease)
Definition A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures.
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 congenital myopathy 20       1
 for disease ribbon | congenital myopathy 20       1
 model of | congenital myopathy 20       1
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autosomal genetic disease
 |__autosomal recessive disease__
myopathy                         |
 |__congenital myopathy__________|
                                 congenital myopathy 20  1 rec.
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Is a autosomal recessive disease
congenital myopathy
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MIM:620310