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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:humeroradial synostosis
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Accession:DOID:0060467 term browser browse the term
Definition:A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. (DO)
Synonyms:exact_synonym: Ramer Ladda syndrome;   humero-radial fusion;   humero-radial synostosis
 primary_id: MESH:C535284
 alt_id: MIM:143050;   MIM:236400
 xref: GARD:2748;   ORDO:3265


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        Musculoskeletal Abnormalities 3440
          synostosis 397
            humeroradial synostosis 0
              Humeroradial Synostosis with Craniofacial Anomalies 0
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Skin and Connective Tissue Diseases 7809
        connective tissue disease 5960
          bone disease 4413
            bone development disease 2373
              dysostosis 632
                synostosis 397
                  humeroradial synostosis 0
                    Humeroradial Synostosis with Craniofacial Anomalies 0
paths to the root