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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:Familial Cystic Parathyroid Adenomatosis
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Accession:DOID:9006156 term browser browse the term
Synonyms:exact_synonym: CYSTIC PARATHYROID ADENOMA
 narrow_synonym: CYSTIC PARATHYROID ADENOMA, SOMATIC
 primary_id: MESH:C564165



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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 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of cellular proliferation 7890
      Neoplasms by Histologic Type 5346
        Glandular and Epithelial Neoplasms 3801
          adenoma 718
            Familial Cystic Parathyroid Adenomatosis 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      Skin and Connective Tissue Diseases 7770
        connective tissue disease 5917
          bone disease 4362
            Bone Neoplasms 712
              Skull Neoplasms 31
                Jaw Neoplasms 11
                  jaw cancer 2
                    Familial Cystic Parathyroid Adenomatosis 1
paths to the root