Search Ontology:
Human Disease

Uruguay faciocardiomusculoskeletal syndrome

Term ID
DOID:0112148
Synonyms
  • FCMSU
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. (2)
References
Ontology
Human Disease   ( DOID:0112148 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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