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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 NCBI chr12:26,920,764...26,978,389
Ensembl chr12:26,920,821...26,979,602 		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 chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7138674 NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,812 		JBrowse link
G GDNF glial cell derived neurotrophic factor treatment ISO RGD PMID:20219648 RGD:405878070 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2204052 NCBI chr14:9,442,971...9,447,521
Ensembl chr14:9,442,971...9,453,035 		JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO mRNA:increased expression:ovary (rat) RGD PMID:2149342 RGD:4889596 NCBI chr 4:101,565,229...101,574,110 JBrowse link
G LHB luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6770916 NCBI chr 6:54,263,574...54,269,286
Ensembl chr 6:54,263,576...54,271,086 		JBrowse link
G PGR progesterone receptor susceptibility ISO RGD PMID:15807882 RGD:1601278 NCBI chr 9:32,035,684...32,129,776
Ensembl chr 9:32,035,684...32,129,221 		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 chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710 		JBrowse link
G PRLR prolactin receptor ISO ClinVar Annotator: match by term: Familial hyperprolactinemia OMIM
ClinVar		 PMID:25741868 PMID:30575453 NCBI chr16:20,637,568...20,655,881
Ensembl chr16:20,618,875...20,810,140 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 treatment ISO RGD PMID:26297122 RGD:13506955 NCBI chr16:79,186,114...79,220,302
Ensembl chr16:79,186,108...79,220,297 		JBrowse link
G SRD5A1 steroid 5 alpha-reductase 1 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr16:75,309,830...75,335,438
Ensembl chr16:75,310,211...75,335,391 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 3:107,840,200...107,918,351
Ensembl chr 3:107,840,200...107,918,350 		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 chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15394
    Nutritional and Metabolic Diseases 7361
      disease of metabolism 7361
        acquired metabolic disease 2257
          hyperprolactinemia 14
            Chiari-Frommel Syndrome 0
            Galactorrhea-Hyperprolactinemia 0
Path 2
Term Annotations click to browse term
  disease 15394
    disease of anatomical entity 15088
      nervous system disease 13228
        central nervous system disease 11814
          brain disease 11097
            hypothalamic disease 470
              pituitary gland disease 239
                hyperpituitarism 97
                  hyperprolactinemia 14
                    Chiari-Frommel Syndrome 0
                    Galactorrhea-Hyperprolactinemia 0
paths to the root