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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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 FHL1 on chromosome Xq26.3. (DO)
Synonyms:exact_synonym: FCMSU;   faciocardiomusculoskeletal syndrome, Uruguay type
 primary_id: MESH:C564544
 alt_id: OMIM:300280
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar
OMIM
PMID:11102932 PMID:25741868 PMID:26467025 PMID:26933038 PMID:28492532 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 17435
    syndrome 8262
      Uruguay faciocardiomusculoskeletal syndrome 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        peripheral nervous system disease 2581
          neuropathy 2374
            neuromuscular disease 1889
              muscular disease 1289
                Uruguay faciocardiomusculoskeletal syndrome 1
paths to the root