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Disease Ontology Browser
Uruguay faciocardiomusculoskeletal syndrome (DOID:0112148)
Alliance: disease page
Synonyms: FCMSU
Alt IDs: OMIM:300280, MESH:C564544
Definition: A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3.

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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
12/10/2024
MGI 6.24 		The Jackson Laboratory