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Metadata
ID DOID:0112148
PURL http://purl.obolibrary.org/obo/DOID_0112148 Copy
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
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