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Summary Literature (0)
DOID:0110674 - congenital myasthenic syndrome 17

Disease Ontology Definition:A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11.

Synonyms: CMS17,

Xenbase Genes :

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014578 - congenital myasthenic syndrome 17


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)