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Metadata
ID	DOID:0112148
Name	Uruguay faciocardiomusculoskeletal syndrome
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. https://pubmed.ncbi.nlm.nih.gov/11102932/, https://pubmed.ncbi.nlm.nih.gov/26933038/
Xrefs	MESH:C564544 MIM:300280
Synonyms	FCMSU [EXACT]
Parent Relationships	is_a syndrome