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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: OMIM:145001;   RDO:0012588
For additional species annotation, visit the Alliance of Genome Resources.



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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 17240
    Stomatognathic Diseases 1010
      Jaw Diseases 303
        Jaw Neoplasms 10
          jaw cancer 2
            Hyperparathyroidism 2 2
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        peripheral nervous system disease 2536
          neuropathy 2332
            neuromuscular disease 1838
              muscular disease 1237
                muscle tissue disease 828
                  Muscle Tissue Neoplasms 139
                    musculoskeletal system benign neoplasm 81
                      connective tissue benign neoplasm 29
                        fibroma 19
                          Hyperparathyroidism 2 2
paths to the root