congenital myasthenic syndrome 17 Disease Ontology Browser

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Disease Ontology Browser

congenital myasthenic syndrome 17 (DOID:0110674)
Alliance: disease page
Synonyms: CMS17
Alt IDs: OMIM:616304
Definition: A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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