congenital myasthenic syndrome 19

Summary

DOID:0110673 - congenital myasthenic syndrome 19

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22.

Synonyms: CMS19

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

: col13a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014745 - congenital myasthenic syndrome 19

MONDO:0014745 - congenital myasthenic syndrome 19

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)