FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myopathy 17 ID (Ontology) DOID:0081349 (Human Disease)
Definition A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15.
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 Genes
 congenital myopathy 17       1
 for disease ribbon | congenital myopathy 17       1
 model of | congenital myopathy 17       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
myopathy                         |
 |__congenital myopathy__________|
                                 congenital myopathy 17  1 rec.
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Is a autosomal recessive disease
congenital myopathy
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MIM:618975