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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 2
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Accession:DOID:9007517 term browser browse the term
Synonyms:exact_synonym: MECOM-RELATED CONDITION;   RUSAT2
 primary_id: OMIM:616738


show annotations for term's descendants           Sort by:
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1, caveolae protein ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 ClinVar PMID:25741868 PMID:38177409 NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: MECOM-related condition | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20091385 PMID:25741868 PMID:26581901 More... NCBI chr 3:30,005,445...30,563,937
Ensembl chr 3:30,005,445...30,602,157 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    physical disorder 5001
      radioulnar synostosis 4
        Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 3
          Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 2
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      musculoskeletal system disease 7930
        connective tissue disease 5393
          bone disease 3899
            bone development disease 2297
              dysostosis 578
                synostosis 377
                  radioulnar synostosis 4
                    Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 3
                      Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 2
paths to the root