FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myopathy 21 ID (Ontology) DOID:0081353 (Human Disease)
Definition A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31.
Also Known As "congenital myopathy 21 with early respiratory failure"
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 Genes
 congenital myopathy 21       2
 for disease ribbon | congenital myopathy 21       2
 model of | congenital myopathy 21       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
myopathy                         |
 |__congenital myopathy__________|
                                 congenital myopathy 21  2 rec.
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Is a autosomal recessive disease
congenital myopathy
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Synonyms
  • "congenital myopathy 21 with early respiratory failure" EXACT
Secondary IDs
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MIM:620326