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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 ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    sensory system disease 5335
      eye disease 2646
        ocular motility disease 133
          ophthalmoplegia 67
            ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      Skin and Connective Tissue Diseases 5625
        connective tissue disease 4355
          bone disease 3041
            ischemic bone disease 27
              osteonecrosis 24
                Femur Head Necrosis 16
                  Legg-Calve-Perthes disease 3
                    ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
paths to the root