congenital myasthenic syndrome 20

Summary

DOID:0110661 - congenital myasthenic syndrome 20

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.

Synonyms: CMS20, congenital myasthenic syndrome 20 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

: slc5a7

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014939 - congenital myasthenic syndrome 20

MONDO:0014939 - congenital myasthenic syndrome 20

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)