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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:Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1
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Accession:DOID:9006251 term browser browse the term
Definition:Thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm. (OMIM)
Synonyms:exact_synonym: RUSAT1
 primary_id: OMIM:605432
For additional species annotation, visit the Alliance of Genome Resources.


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Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 OMIM
ClinVar		 PMID:11101832 PMID:25741868 NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      radioulnar synostosis 3
        Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2
          Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      musculoskeletal system disease 7179
        connective tissue disease 4971
          bone disease 3636
            bone development disease 1810
              dysostosis 441
                synostosis 289
                  radioulnar synostosis 3
                    Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2
                      Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 1
paths to the root