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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:9000209 term browser browse the term
Synonyms:exact_synonym: 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
PMID:11102932, PMID:26933038 NCBI chr  X:159,112,516...159,172,528
Ensembl chr  X:159,112,880...159,172,524
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Uruguay Faciocardiomusculoskeletal Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                Uruguay Faciocardiomusculoskeletal Syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.