Search Ontology:
Human Disease
congenital myasthenic syndrome 17
- Term ID
- DOID:0110674
- Synonyms
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- CMS17
- Definition
- A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. https://www.ncbi.nlm.nih.gov/pubmed/24234652
- References
- Ontology
- Human Disease ( DOID:0110674 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models