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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Uruguay faciocardiomusculoskeletal syndrome
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Accession:DOID:0112148 term browser browse the term
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. (DO)
Synonyms:exact_synonym: FCMSU;   faciocardiomusculoskeletal syndrome, Uruguay type
 primary_id: MESH:C564544
 alt_id: OMIM:300280

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Uruguay faciocardiomusculoskeletal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Uruguay Faciocardiomusculoskeletal syndrome OMIM
PMID:11102932 PMID:19716112 PMID:24634512 PMID:25741868 PMID:26467025 More... NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Uruguay faciocardiomusculoskeletal syndrome 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        peripheral nervous system disease 4075
          neuropathy 3862
            neuromuscular disease 3038
              muscular disease 2122
                Uruguay faciocardiomusculoskeletal syndrome 1
paths to the root