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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:Hyperparathyroidism 2
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Accession:DOID:9002327 term browser browse the term
Synonyms:exact_synonym: Familial Cystic Parathyroid Adenomatosis;   Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas;   HRPT2;   HYPERPARATHYROIDISM 2 WITH JAW TUMORS;   Hpt-Jt;   Hyperparathyroidism-Jaw Tumor Syndrome
 narrow_synonym: HPT-JT PARATHYROID ADENOMATOSIS, FAMILIAL CYSTIC;   HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY
 primary_id: MESH:C563273
 alt_id: MIM:145001



show annotations for term's descendants           Sort by:
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 with jaw tumors ClinVar PMID:25637381 NCBI chr13:55,389,406...55,398,419 JBrowse link
G Cdc73 cell division cycle 73 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
OMIM
CTD
ClinVar
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More... NCBI chr13:55,357,226...55,449,690 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Stomatognathic Diseases 1375
      Jaw Diseases 385
        Jaw Neoplasms 11
          jaw cancer 2
            Hyperparathyroidism 2 2
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        peripheral nervous system disease 4382
          neuropathy 4170
            neuromuscular disease 3218
              muscular disease 2225
                muscle tissue disease 1353
                  Muscle Tissue Neoplasms 187
                    musculoskeletal system benign neoplasm 130
                      connective tissue benign neoplasm 79
                        fibroma 31
                          Hyperparathyroidism 2 2
paths to the root