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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:pituitary-dependent Cushing's disease
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Accession:DOID:3946 term browser browse the term
Definition:A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME.
Synonyms:exact_synonym: Cushing disease;   Inappropriate Adrenocorticotropic Hormone Secretion;   Pituitary ACTH Hypersecretion;   Pituitary Cushing Disease;   Pituitary Cushing Diseases;   Pituitary Cushing Syndrome;   Pituitary Dependent Hypercortisolism;   inappropriate ACTH secretion syndrome;   overproduction of ACTH;   pituitary dependent hypercortisolism disorder;   pituitary-dependent Cushing disease;   pituitary-dependent hypercortisolism disorders
 primary_id: MESH:D047748
 alt_id: RDO:0000271
 xref: EFO:1001110;   ICD10CM:E24.0;   NCI:C113210
For additional species annotation, visit the Alliance of Genome Resources.


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pituitary-dependent Cushing's disease 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 dependent hypercortisolism ClinVar PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 More... NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Pituitary dependent hypercortisolism ClinVar PMID:7737262 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Pituitary dependent hypercortisolism ClinVar PMID:25741868 PMID:26307114 PMID:28492532 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16809932 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16809932 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Scg5 secretogranin V ISS MouseDO NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463 		JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pituitary dependent hypercortisolism		 CTD
ClinVar		 PMID:25485838 PMID:25675982 PMID:25741868 PMID:25942478 PMID:28492532 NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      endocrine system disease 7029
        pituitary gland disease 274
          hyperpituitarism 102
            pituitary-dependent Cushing's disease 7
              Primary Cortisol Resistance 0
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            hypothalamic disease 507
              pituitary gland disease 274
                hyperpituitarism 102
                  pituitary-dependent Cushing's disease 7
                    Primary Cortisol Resistance 0
paths to the root