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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 chr17:50,634,881...50,692,253
Ensembl chr17:50,634,777...50,692,253 		JBrowse link
G DRD2 dopamine receptor D2 treatment EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15286066 PMID:19339912 PMID:26297122 RGD:13506955 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691 		JBrowse link
G GAD1 glutamate decarboxylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7138674 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151 		JBrowse link
G GDNF glial cell derived neurotrophic factor treatment ISO RGD PMID:20219648 RGD:405878070 NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:2204052 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO mRNA:increased expression:skin (rat) RGD PMID:8027581 RGD:4889559 NCBI chr 1:119,507,203...119,515,058
Ensembl chr 1:119,507,198...119,515,054 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO mRNA:increased expression:ovary (rat) RGD PMID:2149342 RGD:4889596 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G LHB luteinizing hormone subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:6770916 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G PGR progesterone receptor susceptibility IAGP RGD PMID:15807882 RGD:1601278 NCBI chr11:101,029,624...101,129,813
Ensembl chr11:101,029,624...101,129,813 		JBrowse link
G PRL prolactin ISO
EXP		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:2880862 PMID:2948424 PMID:4001434 PMID:17303669 PMID:17303669 RGD:1642575 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826 		JBrowse link
G PRLR prolactin receptor IAGP
EXP		 ClinVar Annotator: match by term: Familial hyperprolactinemia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:30575453 NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 treatment ISO RGD PMID:26297122 RGD:13506955 NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440 		JBrowse link
G SRD5A1 steroid 5 alpha-reductase 1 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 5:6,633,440...6,674,386
Ensembl chr 5:6,633,290...6,676,539 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938 		JBrowse link
G TH tyrosine hydroxylase treatment ISO protein:increased tyrosine nitration:hypothalamus, median eminence (rat) RGD PMID:21178126 PMID:26297122 RGD:5128768, RGD:13506955 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    Nutritional and Metabolic Diseases 13671
      disease of metabolism 13671
        acquired metabolic disease 4234
          hyperprolactinemia 15
            Chiari-Frommel Syndrome 0
            Galactorrhea-Hyperprolactinemia 0
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      nervous system disease 53022
        central nervous system disease 38426
          brain disease 36130
            hypothalamic disease 565
              pituitary gland disease 289
                hyperpituitarism 115
                  hyperprolactinemia 15
                    Chiari-Frommel Syndrome 0
                    Galactorrhea-Hyperprolactinemia 0
paths to the root