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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 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Radioulnar synostosis OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28808027 PMID:30796334 PMID:30848080 More... NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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 4:81,342,527...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 18030
    physical disorder 4045
      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 18030
    disease of anatomical entity 17410
      Skin and Connective Tissue Diseases 6546
        connective tissue disease 4899
          bone disease 3577
            bone development disease 1760
              dysostosis 436
                synostosis 273
                  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