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DO Term : congenital myasthenic syndrome 15 [DOID:0110658] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21.
  • synonyms:
  • OMIM:616227,
  • congenital myasthenic syndrome 15 without tubular aggregates,
  • 616227,
  • CMS15
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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