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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:autosomal recessive spondyloepiphyseal dysplasia tarda
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Accession:DOID:0112293 term browser browse the term
Definition:A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease. (DO)
Synonyms:primary_id: MESH:C564797
 alt_id: DOID:9008360;   MIM:271600


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      bone development disease 2345
        osteochondrodysplasia 839
          spondyloepiphyseal dysplasia 16
            spondyloepiphyseal dysplasia tarda 2
              autosomal recessive spondyloepiphyseal dysplasia tarda 0
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Skin and Connective Tissue Diseases 7819
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              osteochondrodysplasia 839
                spondyloepiphyseal dysplasia 16
                  spondyloepiphyseal dysplasia tarda 2
                    autosomal recessive spondyloepiphyseal dysplasia tarda 0
paths to the root