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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:hyperprolactinemia
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Accession:DOID:12700 term browser browse the term
Definition:An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. (DO)
Synonyms:exact_synonym: HPRL;   Hyperprolactinaemia;   Inappropriate Prolactin Secretion;   Inappropriate Prolactin Secretion Syndrome;   hyperprolactinemias;   pregnancy-related A-G syndrome;   prolactin hypersecretion syndrome
 narrow_synonym: FAMILIAL HYPERPROLACTINEMIA
 primary_id: MESH:D006966
 alt_id: MIM:615555
 xref: EFO:0007319;   ICD10CM:E22.1;   NCI:C113168
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 ISO protein:increased expression:liver RGD PMID:23486593 RGD:11535162 Ensembl chr17:49,603,268...49,659,318 JBrowse link
G DRD2 dopamine receptor D2 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15286066 PMID:19339912 PMID:26297122 RGD:13506955 NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7138674 NCBI chr2B:58,100,623...58,145,045
Ensembl chr2B:175,558,538...175,602,944 		JBrowse link
G GDNF glial cell derived neurotrophic factor treatment ISO RGD PMID:20219648 RGD:405878070 NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2204052 NCBI chr 8:24,700,268...24,707,332
Ensembl chr 8:21,609,407...21,615,936 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO mRNA:increased expression:skin (rat) RGD PMID:8027581 RGD:4889559 NCBI chr 1:83,130,065...83,156,996
Ensembl chr 1:118,128,493...118,153,124 		JBrowse link
G LHB luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6770916 NCBI chr19:46,017,880...46,021,395
Ensembl chr19:54,738,139...54,739,424 		JBrowse link
G PGR progesterone receptor susceptibility ISO RGD PMID:15807882 RGD:1601278 NCBI chr11:95,997,677...96,098,866 JBrowse link
G PRL prolactin ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:2880862 PMID:2948424 PMID:4001434 PMID:17303669 RGD:1642575 NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829 		JBrowse link
G PRLR prolactin receptor ISO ClinVar Annotator: match by term: Familial hyperprolactinemia OMIM
ClinVar		 PMID:25741868 PMID:30575453 NCBI chr 5:75,139,852...75,321,695
Ensembl chr 5:80,532,058...80,600,403 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 treatment ISO RGD PMID:26297122 RGD:13506955 Ensembl chr 5:1,437,567...1,488,829 JBrowse link
G SRD5A1 steroid 5 alpha-reductase 1 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 5:6,953,795...6,996,010
Ensembl chr 5:6,629,093...6,664,264 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr2A:31,542,646...31,597,394
Ensembl chr2A:31,610,487...31,665,718 		JBrowse link
G TH tyrosine hydroxylase treatment ISO protein:increased tyrosine nitration:hypothalamus, median eminence (rat) RGD PMID:21178126 PMID:26297122 RGD:13506955 RGD:5128768 NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15805
    Nutritional and Metabolic Diseases 7474
      disease of metabolism 7474
        acquired metabolic disease 2240
          hyperprolactinemia 14
            Chiari-Frommel Syndrome 0
            Galactorrhea-Hyperprolactinemia 0
Path 2
Term Annotations click to browse term
  disease 15805
    disease of anatomical entity 15483
      nervous system disease 13566
        central nervous system disease 12125
          brain disease 11399
            hypothalamic disease 471
              pituitary gland disease 240
                hyperpituitarism 99
                  hyperprolactinemia 14
                    Chiari-Frommel Syndrome 0
                    Galactorrhea-Hyperprolactinemia 0
paths to the root