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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:hyperpituitarism
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Accession:DOID:2444 term browser browse the term
Definition:Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA.
Synonyms:exact_synonym: Inappropriate FSH Secretion Syndrome;   Inappropriate Follicle Stimulating Hormone Secretion;   Inappropriate LH Secretion Syndrome;   Inappropriate Luteinizing Hormone Secretion;   Inappropriate TSH Secretion Syndrome;   Inappropriate Thyroid Stimulating Hormone Secretion;   Pituitary FSH Hypersecretion;   Pituitary LH Hypersecretion;   Pituitary TSH Hypersecretion
 primary_id: MESH:D006964;   RDO:0004720
For additional species annotation, visit the Alliance of Genome Resources.


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acromegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1682667 PMID:3059976 PMID:6237480 PMID:7440347 PMID:9186818 More... NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11254676 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
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1682667 PMID:9186818 PMID:18381583 PMID:18388193 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
Gigantism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd26 ankyrin repeat domain 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO DNA:missense mutation:cds:6605G>A(p.C2202Y)(human) RGD PMID:16222665 RGD:11568154 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
hyperprolactinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc3 ATP binding cassette subfamily C member 3 IEP protein:increased expression:liver RGD PMID:23486593 RGD:11535162 NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
JBrowse link
G Drd2 dopamine receptor D2 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:15286066 PMID:19339912 PMID:26297122 RGD:13506955 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7138674 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2204052 NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IEP mRNA:increased expression:ovary (rat) RGD PMID:2149342 RGD:4889596 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IEP mRNA:increased expression:skin (rat) RGD PMID:8027581 RGD:4889559 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6770916 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972
JBrowse link
G Pgr progesterone receptor susceptibility ISO RGD PMID:15807882 RGD:1601278 NCBI chr 8:6,073,216...6,131,552
Ensembl chr 8:6,072,673...6,131,344
JBrowse link
G Prl prolactin IEP
ISO
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:2880862 PMID:2948424 PMID:4001434 PMID:17303669 PMID:17303669 RGD:1642575 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
G Prlr prolactin receptor ISO ClinVar Annotator: match by term: Familial hyperprolactinemia OMIM
ClinVar
PMID:30575453 NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
JBrowse link
G Slc6a3 solute carrier family 6 member 3 treatment IEP RGD PMID:26297122 RGD:13506955 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 IEP mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 1:33,686,069...33,720,468
Ensembl chr 1:33,686,391...33,720,461
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 IEP mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
JBrowse link
G Th tyrosine hydroxylase treatment IEP protein:increased tyrosine nitration:hypothalamus, median eminence (rat) RGD PMID:21178126 PMID:26297122 RGD:5128768, RGD:13506955 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link
pituitary-dependent Cushing's disease term browser
Symbol Object Name Qualifiers 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 1:201,407,287...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 ACTH Hypersecretion ClinVar PMID:7737262 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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 ClinVar Annotator: match by term: Pituitary ACTH Hypersecretion
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25485838 PMID:25675982 PMID:25942478 NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
JBrowse link
Rahman Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Rahman syndrome
ClinVar Annotator: match by term: RAHMAN SYNDROME
OMIM
ClinVar
PMID:23945933 PMID:25081361 PMID:25741868 PMID:25741869 PMID:28475857 More... NCBI chr17:41,486,634...41,487,293
Ensembl chr17:41,486,560...41,487,403
JBrowse link
Simpson-Golabi-Behmel syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1
ClinVar Annotator: match by OMIM:312870
OMIM
ClinVar
PMID:9950367 PMID:10814714 PMID:12713262 PMID:16158429 PMID:17603795 More... NCBI chr  X:131,868,983...132,236,837
Ensembl chr  X:131,868,990...132,236,798
JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284
JBrowse link
G Retsat retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chr 4:104,653,306...104,662,069
Ensembl chr 4:104,653,155...104,668,310
JBrowse link
Tatton-Brown-Rahman Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21067377 PMID:21518476 PMID:22160010 More... NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
Tenorio Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf125 ring finger protein 125 ISO ClinVar Annotator: match by term: Tenorio syndrome OMIM
ClinVar
PMID:25196541 PMID:25741868 PMID:28492532 NCBI chr18:12,254,066...12,275,719
Ensembl chr18:12,253,852...12,275,983
JBrowse link
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: THAUVIN-ROBINET-FAIVRE SYNDROME
ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome
ClinVar Annotator: match by term: Thauvin-robinet-faivre syndrome
ClinVar
OMIM
PMID:25741868 PMID:26660953 PMID:27183861 NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      endocrine system disease 5810
        pituitary gland disease 172
          hyperpituitarism 34
            Gigantism + 9
            acromegaly + 3
            hyperprolactinemia + 16
            pituitary-dependent Cushing's disease + 6
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            thalamic disease 227
              hypothalamic disease 227
                pituitary gland disease 172
                  hyperpituitarism 34
                    Gigantism + 9
                    acromegaly + 3
                    hyperprolactinemia + 16
                    pituitary-dependent Cushing's disease + 6
paths to the root