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
Accession: DOID:9005158
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
xref: EFO:0003099
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Avpr1b
arginine vasopressin receptor 1B
ISO
RGD
PMID:23884782
RGD:14700670
NCBI chr13:43,046,960...43,057,110
Ensembl chr13:43,046,267...43,057,792
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Crh
corticotropin releasing hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21359208
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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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 chr10:26,810,411...26,825,768
Ensembl chr10:26,810,423...26,825,769
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Cushing syndrome | ClinVar Annotator: match by term: Cushing's syndrome
ClinVar
PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:11093740 PMID:11784876 PMID:12727968 PMID:12970262 PMID:12970318 PMID:15126527 PMID:15952988 PMID:16507630 PMID:16543670 PMID:17873334 PMID:20197676 PMID:21525160 PMID:21713996 PMID:21835143 PMID:23281139 PMID:23403822 PMID:23536913 PMID:23796510 PMID:23843956 PMID:24855271 PMID:25157968 PMID:25719192 PMID:25741868 PMID:25802881 PMID:26619011 PMID:27398169 PMID:27506760 PMID:28492532 PMID:29059381 PMID:30702195 More...
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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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 chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6088243 PMID:19153526
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Prkacb
protein kinase cAMP-activated catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29669941
NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15521956 PMID:29367455 PMID:12213893
RGD:1581269
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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Armc5
armadillo repeat containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:182,820,141...182,826,913
Ensembl chr 1:182,820,141...182,826,907
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Gcgr
glucagon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20529775
NCBI chr10:105,808,474...105,816,641
Ensembl chr10:105,808,473...105,816,640
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA DNA:missense mutations:exon:p.R201S, p.R201H (human)
OMIM ClinVar RGD
PMID:1505964 PMID:8702665 PMID:9876352 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:15711092 PMID:18553568 PMID:18796523 PMID:20427508 PMID:23281139 PMID:23796510 PMID:24481334 PMID:24626099 PMID:25044890 PMID:25219572 PMID:25741868 PMID:25802881 PMID:28492532 PMID:29059381 PMID:29072892 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 PMID:12727968 More...
RGD:11568052
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISO
ClinVar Annotator: match by term: ACTH-independent adrenal Cushing syndrome, somatic
ClinVar
PMID:24571724 PMID:24700472 PMID:24747643 PMID:24855271
NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
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Armc5
armadillo repeat containing 5
ISO
ClinVar Annotator: match by term: ACTH-independent macronodular adrenal hyperplasia 2
OMIM ClinVar
PMID:24283224 PMID:24601692 PMID:24708098 PMID:24905064 PMID:25741868 PMID:27094308 PMID:28492532 PMID:32117062 PMID:35368666 PMID:36727580 More...
NCBI chr 1:182,820,141...182,826,913
Ensembl chr 1:182,820,141...182,826,907
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