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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:spondyloepiphyseal dysplasia tarda with characteristic facies
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Accession:DOID:0112289 term browser browse the term
Definition:A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. (DO)
Synonyms:primary_id: MESH:C564003
 alt_id: DOID:9008185;   MIM:600093


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Path 1
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Pathologic Processes 5472
        Disease Attributes 665
          Facies 270
            spondyloepiphyseal dysplasia tarda with characteristic facies 0
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      musculoskeletal system disease 4517
        connective tissue disease 3414
          bone disease 2876
            bone development disease 1148
              osteochondrodysplasia 687
                spondyloepiphyseal dysplasia 13
                  spondyloepiphyseal dysplasia tarda 1
                    spondyloepiphyseal dysplasia tarda with characteristic facies 0
paths to the root