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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


show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      arthrogryposis multiplex congenita 241
        ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Skin and Connective Tissue Diseases 7520
        connective tissue disease 5786
          bone disease 4302
            ischemic bone disease 31
              osteonecrosis 28
                Femur Head Necrosis 20
                  Legg-Calve-Perthes disease 3
                    ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
paths to the root