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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
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Accession:DOID:9827 term browser browse the term
Synonyms:primary_id: MESH:C562408
 alt_id: OMIM:179300
 xref: ICD9CM:755.53
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
radioulnar synostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO RGD PMID:11101832 RGD:11353968 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
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Radioulnar synostosis ClinVar
OMIM
PMID:31138930 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
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 term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
ClinVar Annotator: match by OMIM:616738
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 16918
    physical disorder 2958
      radioulnar synostosis 3
        Radioulnar Synostosis Retinal Pigment Abnormalities 0
        Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia + 2
        Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male 0
        Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 0
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      Skin and Connective Tissue Diseases 5625
        connective tissue disease 4355
          bone disease 3040
            bone development disease 1371
              dysostosis 381
                synostosis 229
                  radioulnar synostosis 3
                    Radioulnar Synostosis Retinal Pigment Abnormalities 0
                    Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia + 2
                    Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male 0
                    Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 0
paths to the root