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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
:
agrn
| MONDO:0014052 - congenital myasthenic syndrome 8 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
congenital myasthenic syndrome (is_a)