Search Ontology:
Human Disease
congenital myopathy 21
- Term ID
- DOID:0081353
- Synonyms
-
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0081353 )
- is a type of
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