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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:Dwarfism Stiff Joint Ocular Abnormalities
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Accession:DOID:9005074 term browser browse the term
Synonyms:exact_synonym: Dwarfism with Stiff Joints and Ocular Abnormalities;   Moore-Federman syndrome
 primary_id: MESH:C535724
 alt_id: OMIM:127200



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    sensory system disease 6930
      eye disease 3462
        Eye Abnormalities 778
          Dwarfism Stiff Joint Ocular Abnormalities 0
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        Congenital Abnormalities 7501
          Musculoskeletal Abnormalities 3281
            Congenital Limb Deformities 1019
              Congenital Upper Extremity Deformities 215
                Congenital Hand Deformities 186
                  Dwarfism Stiff Joint Ocular Abnormalities 0
paths to the root