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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:ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
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Accession:DOID:9008794 term browser browse the term
Synonyms:exact_synonym: APUG
 primary_id: OMIM:614262;   RDO:9001347
For additional species annotation, visit the Alliance of Genome Resources.


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ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA related kinase 9 ISO OMIM NCBI chrNW_004955523:443,832...483,397
Ensembl chrNW_004955523:446,748...482,246
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12678
    Pathological Conditions, Signs and Symptoms 8328
      Pathologic Processes 5667
        Necrosis 84
          osteonecrosis 22
            ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
Path 2
Term Annotations click to browse term
  disease 12678
    disease of anatomical entity 12356
      Skin and Connective Tissue Diseases 4807
        connective tissue disease 3654
          bone disease 2504
            ischemic bone disease 23
              osteonecrosis 22
                Femur Head Necrosis 14
                  Legg-Calve-Perthes disease 3
                    ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
paths to the root