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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:0014578 - congenital myasthenic syndrome 17 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee