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DO Term : Uruguay faciocardiomusculoskeletal syndrome [DOID:0112148] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • MESH:C564544,
  • OMIM:300280,
  • FCMSU,
  • 300280
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents