FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term congenital myopathy 14 ID (Ontology) DOID:0081346 (Human Disease)
Definition A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time.
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 congenital myopathy 14       4
 for disease ribbon | congenital myopathy 14       4
 model of | congenital myopathy 14       4
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autosomal genetic disease
 |__autosomal recessive disease__
myopathy                         |
 |__congenital myopathy__________|
                                 congenital myopathy 14  4 rec.
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Is a autosomal recessive disease
congenital myopathy
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MIM:618414
ORDO:544602