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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_004955451:11,087,246...11,130,108
Ensembl chrNW_004955451:11,087,570...11,130,482 		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_004955412:15,054,255...15,114,558
Ensembl chrNW_004955412:15,054,038...15,114,573 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7138674 NCBI chrNW_004955449:3,964,006...4,001,850
Ensembl chrNW_004955449:3,963,705...4,001,850 		JBrowse link
G Gdnf glial cell derived neurotrophic factor treatment ISO RGD PMID:20219648 RGD:405878070 NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2204052 NCBI chrNW_004955403:48,341,731...48,346,595
Ensembl chrNW_004955403:48,343,597...48,346,595 		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 chrNW_004955435:22,414,605...22,421,682 JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6770916 NCBI chrNW_004955559:1,656,106...1,657,192 JBrowse link
G Pgr progesterone receptor susceptibility ISO RGD PMID:15807882 RGD:1601278 NCBI chrNW_004955412:4,643,839...4,693,478 JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum		 CTD
RGD		 PMID:2880862 PMID:2948424 PMID:4001434 PMID:17303669 RGD:1642575 NCBI chrNW_004955483:4,495,257...4,503,377 JBrowse link
G Prlr prolactin receptor ISO ClinVar Annotator: match by term: Familial hyperprolactinemia OMIM
ClinVar		 PMID:25741868 PMID:30575453 NCBI chrNW_004955426:20,161,406...20,326,688
Ensembl chrNW_004955426:20,168,830...20,326,840 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 treatment ISO RGD PMID:26297122 RGD:13506955 NCBI chrNW_004955504:721,470...747,553
Ensembl chrNW_004955504:721,429...747,630 		JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chrNW_004955504:4,360,909...4,388,964
Ensembl chrNW_004955504:4,360,453...4,391,133 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chrNW_004955441:12,149...95,733
Ensembl chrNW_004955441:10,443...95,743 		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_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14316
    Nutritional and Metabolic Diseases 6969
      disease of metabolism 6969
        acquired metabolic disease 2112
          hyperprolactinemia 14
            Chiari-Frommel Syndrome 0
            Galactorrhea-Hyperprolactinemia 0
Path 2
Term Annotations click to browse term
  disease 14316
    disease of anatomical entity 14023
      nervous system disease 12336
        central nervous system disease 11049
          brain disease 10376
            hypothalamic disease 452
              pituitary gland disease 229
                hyperpituitarism 95
                  hyperprolactinemia 14
                    Chiari-Frommel Syndrome 0
                    Galactorrhea-Hyperprolactinemia 0
paths to the root