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DO Term : congenital myopathy 22B [DOID:0081355] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23.
  • synonyms:
  • 620369,
  • OMIM:620369
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents