OBO ID: DOID:0112148
Term Name: Uruguay faciocardiomusculoskeletal syndrome Search Ontology:
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 Uruguay faciocardiomusculoskeletal syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FHL1 ?Uruguay faciocardiomusculoskeletal syndrome 300280
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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