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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:jaw cancer
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Accession:DOID:1862 term browser browse the term
Definition:A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone. (DO)
Synonyms:exact_synonym: Cancer of the Jaw;   cancer of jaw;   jaw cancers
 primary_id: RDO:0005917
For additional species annotation, visit the Alliance of Genome Resources.


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Familial Cystic Parathyroid Adenomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
JBrowse link
Hyperparathyroidism 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt2 Beta-1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 ClinVar PMID:25637381 NCBI chr13:55,389,406...55,398,419
Ensembl chr13:55,389,406...55,398,419
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hyperparathyroidism 2
ClinVar Annotator: match by term: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY
ClinVar
OMIM
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More... NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    Stomatognathic Diseases 1010
      Jaw Diseases 303
        Jaw Neoplasms 10
          jaw cancer 2
            Familial Cystic Parathyroid Adenomatosis 1
            Hyperparathyroidism 2 2
            mandibular cancer 0
            maxillary cancer 0
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      Skin and Connective Tissue Diseases 5812
        connective tissue disease 4421
          bone disease 3108
            Bone Neoplasms 692
              Skull Neoplasms 30
                Jaw Neoplasms 10
                  jaw cancer 2
                    Familial Cystic Parathyroid Adenomatosis 1
                    Hyperparathyroidism 2 2
                    mandibular cancer 0
                    maxillary cancer 0
paths to the root