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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
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Accession:DOID:9002496 term browser browse the term
Synonyms:exact_synonym: CTRUS;   RUSAT;   THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS
 primary_id: MESH:C565328
 xref: OMIM:PS605432
For additional species annotation, visit the Alliance of Genome Resources.


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Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr 4:82,296,888...82,301,419
Ensembl chr 4:82,298,152...82,300,503
Ensembl chr 4:82,298,152...82,300,503
JBrowse link
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 NCBI chr 4:82,296,888...82,301,419
Ensembl chr 4:82,298,152...82,300,503
Ensembl chr 4:82,298,152...82,300,503
JBrowse link
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by OMIM:616738
ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
OMIM
ClinVar
PMID:20091385, PMID:25741868, PMID:26581901 NCBI chr 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    physical disorder 985
      radioulnar synostosis 3
        Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2
          Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 1
          Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              dysostosis 342
                synostosis 229
                  radioulnar synostosis 3
                    Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2
                      Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 1
                      Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 1
paths to the root

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