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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:Johnston Aarons Schelley Syndrome
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Accession:DOID:9001739 term browser browse the term
Synonyms:exact_synonym: Arthrogryposis with Hyperkeratosis;   Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns
 primary_id: MESH:C535883
 alt_id: OMIM:208158


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Johnston Aarons Schelley Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone inflammation disease 1492
              arthropathy 1471
                arthrogryposis multiplex congenita 242
                  Johnston Aarons Schelley Syndrome 0
paths to the root