Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
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 PMID:25741868 NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
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 term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 OMIM
ClinVar
PMID:20091385 PMID:25741868 PMID:26581901 PMID:34355501 NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    physical disorder 4115
      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 18109
    disease of anatomical entity 17480
      musculoskeletal system disease 7162
        connective tissue disease 4954
          bone disease 3629
            bone development disease 1807
              dysostosis 440
                synostosis 287
                  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