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Disease Ontology Browser
Coffin-Lowry syndrome (DOID:3783)
Alliance: disease page
Alt IDs: OMIM:303600, MESH:D038921, NCI:C84643, UMLS_CUI:C0265252
Definition: A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.

Disease References using Mouse Models (5)
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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Send questions and comments to User Support. 		last database update
05/14/2024
MGI 6.23 		The Jackson Laboratory