congenital myasthenic syndrome 21

Summary

DOID:0110672 - congenital myasthenic syndrome 21

Disease Ontology Definition: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: CMS21, congenital myasthenic syndrome 21, presynaptic

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc18a3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014983 - congenital myasthenic syndrome 21

MONDO:0014983 - congenital myasthenic syndrome 21

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital myasthenic syndrome (is_a)