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Summary Literature (0)
DOID:0112148 - Uruguay faciocardiomusculoskeletal syndrome

Disease Ontology 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.

Synonyms: FCMSU,

Xenbase Genes : fhl1



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a)