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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:Cushing Syndrome
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Accession:DOID:9005158 term browser browse the term
Definition:A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.
Synonyms:exact_synonym: Cushing syndrome;   Cushing's syndrome
 primary_id: MESH:D003480
 alt_id: DOID:12252
For additional species annotation, visit the Alliance of Genome Resources.

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Cushing Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr1b arginine vasopressin receptor 1B ISO RGD PMID:23884782 RGD:14700670 NCBI chr13:48,367,307...48,378,831
Ensembl chr13:48,367,307...48,378,831 		JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:21359208 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863 		JBrowse link
G Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 IAGP DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism RGD PMID:12080446 RGD:1626491 NCBI chr10:27,847,447...27,862,896
Ensembl chr10:27,847,439...27,862,868 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Cushing's syndrome ClinVar PMID:1594625 PMID:1944469 PMID:2109828 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO protein:decreased activity:blood, mononuclear leukocyte RGD PMID:19635986, PMID:10356629, PMID:10471508 RGD:7174715, RGD:7174723, RGD:7174722 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6088243 PMID:19153526 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967 		JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 PMID:29367455, PMID:12213893 RGD:1581269 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336 		JBrowse link
ACTH-independent macronodular adrenal hyperplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc5 armadillo repeat containing 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:199,655,069...199,662,419
Ensembl chr 1:199,655,660...199,662,427 		JBrowse link
G Gcgr glucagon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20529775 NCBI chr10:109,707,863...109,716,253
Ensembl chr10:109,707,962...109,716,128 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA
DNA:missense mutations:exon:p.R201S, p.R201H (human)
ClinVar Annotator: match by OMIM:219080		 OMIM
ClinVar		 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011, PMID:12727968 RGD:11568052 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483 		JBrowse link
ACTH-independent macronodular adrenal hyperplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc5 armadillo repeat containing 5 ISO ClinVar Annotator: match by term: Acth-independent macronodular adrenal hyperplasia 2 OMIM
ClinVar		 PMID:24283224 PMID:24601692 PMID:24905064 NCBI chr 1:199,655,069...199,662,419
Ensembl chr 1:199,655,660...199,662,427 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Cushing Syndrome 10
        ACTH-independent macronodular adrenal hyperplasia 1 3
        ACTH-independent macronodular adrenal hyperplasia 2 1
        ectopic Cushing syndrome 0
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      endocrine system disease 5000
        adrenal gland disease 170
          adrenal cortex disease 75
            adrenal gland hyperfunction 31
              Cushing Syndrome 10
                ACTH-independent macronodular adrenal hyperplasia 1 3
                ACTH-independent macronodular adrenal hyperplasia 2 1
                ectopic Cushing syndrome 0
paths to the root