congenital myasthenic syndrome 8

Summary

DOID:0110657 - congenital myasthenic syndrome 8

Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.

Synonyms: CMS8, congenital myasthenic syndrome 8 with pre- and postsynaptic defects, congenital myasthenic syndrome due to agrin deficiency

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

: agrn

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014052 - congenital myasthenic syndrome 8

MONDO:0014052 - congenital myasthenic syndrome 8

MIM:

MIM:615120 - MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8

MIM:615120 - MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8

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)