congenital myasthenic syndrome 14

Summary

DOID:0110669 - congenital myasthenic syndrome 14

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.

Synonyms: CMS14, CMSTA3, congenital myasthenic syndrome 14, with tubular aggregates, congenital myasthenic syndrome with tubular aggregates 3

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

: alg2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014543 - congenital myasthenic syndrome 14

MONDO:0014543 - congenital myasthenic syndrome 14

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)