Search Ontology:
Human Disease

congenital myopathy 17

Term ID
DOID:0081349
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0081349 )
Relationships
is a type of
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Genes Involved
Zebrafish Models