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Metadata
ID	DOID:0081349
Name	congenital myopathy 17
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. https://pubmed.ncbi.nlm.nih.gov/30403323/
Xrefs	MIM:618975
Parent Relationships	is_a autosomal recessive disease is_a congenital myopathy
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance