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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:Rozin Hertz Goodman Syndrome
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Accession:DOID:9004256 term browser browse the term
Synonyms:exact_synonym: Camptodactyly, joint contractures, facial skeletal defects;   Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
 primary_id: MESH:C535876
 alt_id: OMIM:602612


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      Rozin Hertz Goodman Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Skin and Connective Tissue Diseases 6322
        connective tissue disease 4916
          bone disease 3596
            bone inflammation disease 1195
              arthropathy 1176
                Contracture 132
                  Rozin Hertz Goodman Syndrome 0
paths to the root