congenital myasthenic syndrome 15

Summary

DOID:0110658 - congenital myasthenic syndrome 15

Disease Ontology Definition: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: CMS15, congenital myasthenic syndrome 15 without tubular aggregates,

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

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Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014542 - congenital myasthenic syndrome 15

MONDO:0014542 - congenital myasthenic syndrome 15

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

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

Parent(s): congenital myasthenic syndrome (is_a)