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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:ACTH-secreting pituitary adenoma
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Accession:DOID:7004 term browser browse the term
Definition:A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. (DO)
Synonyms:exact_synonym: ACTH Producing Pituitary Adenoma;   ACTH-Secreting Pituitary Adenomas;   ACTH-producing pituitary adenomas;   CUSHING DISEASE, PITUITARY;   Corticotroph Adenoma;   Corticotroph Adenomas;   PITA4;   PITUITARY ADENOMA 4, ACTH-SECRETING;   PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC;   Pituitary Corticotropin Secreting Adenoma;   corticotropinoma;   pituitary corticotropin-secreting adenomas
 primary_id: MESH:D049913
 alt_id: OMIM:219090
 xref: EFO:1000066;   GARD:12867;   NCI:C7462
For additional species annotation, visit the Alliance of Genome Resources.


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ACTH-secreting pituitary adenoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Pituitary adenoma, acth-secreting, somatic ClinVar PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 More... NCBI chr 2:5,042,883...5,048,885
Ensembl chr 2:5,041,990...5,048,781 		JBrowse link
G AVPR1B vasopressin receptor 1B ISO RGD PMID:23884782 RGD:14700670 NCBI chr 9:66,769,472...66,776,916
Ensembl chr 9:66,772,591...66,776,931 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16195406 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G USP8 ubiquitin specific peptidase 8 ISO OMIM NCBI chr 1:121,306,031...121,376,154
Ensembl chr 1:121,306,032...121,413,223 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of cellular proliferation 7152
      benign neoplasm 2122
        cell type benign neoplasm 1871
          adenoma 670
            pituitary adenoma 23
              functioning pituitary adenoma 18
                ACTH-secreting pituitary adenoma 4
                  Nelson syndrome 0
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Nervous System Neoplasms 1529
          Central Nervous System Neoplasms 1355
            central nervous system cancer 723
              brain cancer 708
                supratentorial cancer 443
                  diencephalic neoplasm 37
                    hypothalamic neoplasm 37
                      Pituitary Neoplasms 35
                        pituitary gland benign neoplasm 23
                          pituitary adenoma 23
                            functioning pituitary adenoma 18
                              ACTH-secreting pituitary adenoma 4
                                Nelson syndrome 0
paths to the root