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DO Term : congenital myasthenic syndrome 21 [DOID:0110672] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11.
  • synonyms:
  • 617239,
  • CMS21,
  • OMIM:617239,
  • congenital myasthenic syndrome 21, presynaptic
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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