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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 (never in mitosis gene a)-related expressed kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
PMID:25741868 PMID:26633546 PMID:28492532 NCBI chr12:85,299,514...85,339,362
Ensembl chr12:85,299,514...85,339,362
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14439
    Pathological Conditions, Signs and Symptoms 9435
      Pathologic Processes 6436
        Necrosis 89
          osteonecrosis 24
            ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
Path 2
Term Annotations click to browse term
  disease 14439
    disease of anatomical entity 14033
      Skin and Connective Tissue Diseases 5333
        connective tissue disease 4063
          bone disease 2737
            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