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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:related_synonym: RADIOULNAR SYNOSTOSIS, NONSYNDROMIC, SUSCEPTIBILITY TO
 primary_id: MESH:C562408
 alt_id: MIM:179300
 xref: ICD9CM:755.53


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 Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Radioulnar synostosis ClinVar NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Radioulnar synostosis | ClinVar Annotator: match by term: Radioulnar synostosis, nonsyndromic, susceptibility to ClinVar
OMIM		 PMID:25741868 PMID:27606499 PMID:28492532 PMID:28808027 PMID:28991257 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
ClinVar Annotator: match by term: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS		 CTD
ClinVar		 PMID:24239177 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 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 Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 ClinVar PMID:25741868 PMID:38177409 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		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 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 19072
    physical disorder 5183
      radioulnar synostosis 4
        Radioulnar Synostosis Retinal Pigment Abnormalities 0
        Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia + 3
        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 19072
    disease of anatomical entity 18365
      Skin and Connective Tissue Diseases 7691
        connective tissue disease 5942
          bone disease 4396
            bone development disease 2366
              dysostosis 630
                synostosis 396
                  radioulnar synostosis 4
                    Radioulnar Synostosis Retinal Pigment Abnormalities 0
                    Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia + 3
                    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