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DO Term : congenital myasthenic syndrome 14 [DOID:0110669] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.
  • synonyms:
  • congenital myasthenic syndrome with tubular aggregates 3,
  • 616228,
  • OMIM:616228,
  • congenital myasthenic syndrome 14, with tubular aggregates,
  • CMS14,
  • CMSTA3
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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