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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:growth hormone secreting pituitary adenoma 2
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Accession:DOID:0112007 term browser browse the term
Definition:A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3. (DO)
Synonyms:exact_synonym: ACROMEGALY DUE TO PITUITARY ADENOMA 2;   GH-secreting pituitary adenoma 2;   PAGH2;   PITA2;   X-linked acromegaly
 primary_id: OMIM:300943


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growth hormone secreting pituitary adenoma 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 OMIM
ClinVar		 PMID:25470569 PMID:25741868 PMID:25806919 PMID:25806920 PMID:25806921 More... NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      benign neoplasm 2228
        cell type benign neoplasm 1968
          adenoma 718
            pituitary adenoma 29
              functioning pituitary adenoma 19
                growth hormone secreting pituitary adenoma 11
                  growth hormone secreting pituitary adenoma 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Nervous System Neoplasms 1615
          Central Nervous System Neoplasms 1413
            central nervous system cancer 766
              brain cancer 750
                supratentorial cancer 475
                  diencephalic neoplasm 62
                    hypothalamic neoplasm 62
                      Pituitary Neoplasms 60
                        pituitary gland benign neoplasm 29
                          pituitary adenoma 29
                            functioning pituitary adenoma 19
                              growth hormone secreting pituitary adenoma 11
                                growth hormone secreting pituitary adenoma 2 1
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