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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
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 chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of cellular proliferation 5921
      Neoplasms by Histologic Type 3731
        Glandular and Epithelial Neoplasms 2322
          adenoma 303
            Familial Cystic Parathyroid Adenomatosis 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Skin and Connective Tissue Diseases 5478
        connective tissue disease 4105
          bone disease 3536
            Bone Neoplasms 1254
              Skull Neoplasms 26
                Jaw Neoplasms 8
                  jaw cancer 2
                    Familial Cystic Parathyroid Adenomatosis 1
paths to the root