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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.

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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 NCBI chrNW_004936490:11,039,968...11,086,670
Ensembl chrNW_004936490:11,040,445...11,086,566 		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 chrNW_004936612:1,094,686...1,154,149
Ensembl chrNW_004936612:1,094,680...1,154,798 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7138674 NCBI chrNW_004936509:1,160,559...1,201,037
Ensembl chrNW_004936509:1,161,094...1,201,576 		JBrowse link
G Gdnf glial cell derived neurotrophic factor treatment ISO RGD PMID:20219648 RGD:405878070 NCBI chrNW_004936518:4,291,391...4,310,752
Ensembl chrNW_004936518:4,288,154...4,310,753 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2204052 NCBI chrNW_004936757:1,282,185...1,285,804
Ensembl chrNW_004936757:1,282,185...1,285,832 		JBrowse link
G Pgr progesterone receptor susceptibility ISO RGD PMID:15807882 RGD:1601278 NCBI chrNW_004936551:6,498,553...6,573,212
Ensembl chrNW_004936551:6,498,553...6,573,222 		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 chrNW_004936552:7,204,298...7,212,632 JBrowse link
G Prlr prolactin receptor ISO ClinVar Annotator: match by term: Familial hyperprolactinemia OMIM
ClinVar		 PMID:25741868 PMID:30575453 NCBI chrNW_004936518:6,352,133...6,495,242
Ensembl chrNW_004936518:6,473,536...6,487,757 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 treatment ISO RGD PMID:26297122 RGD:13506955 NCBI chrNW_004936815:359,775...400,690
Ensembl chrNW_004936815:359,775...400,690 		JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chrNW_004936634:758,231...798,809 JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chrNW_004936493:1,663,999...1,708,530
Ensembl chrNW_004936493:1,663,911...1,708,502 		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 chrNW_004936794:478,651...486,887
Ensembl chrNW_004936794:478,614...487,061 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    Nutritional and Metabolic Diseases 7053
      disease of metabolism 7053
        acquired metabolic disease 2139
          hyperprolactinemia 12
            Chiari-Frommel Syndrome 0
            Galactorrhea-Hyperprolactinemia 0
Path 2
Term Annotations click to browse term
  disease 14615
    disease of anatomical entity 14320
      nervous system disease 12594
        central nervous system disease 11247
          brain disease 10564
            hypothalamic disease 460
              pituitary gland disease 236
                hyperpituitarism 95
                  hyperprolactinemia 12
                    Chiari-Frommel Syndrome 0
                    Galactorrhea-Hyperprolactinemia 0
paths to the root