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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: OMIM: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 IEP protein:increased expression:liver RGD PMID:23486593 RGD:11535162 NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
JBrowse link
G Drd2 dopamine receptor D2 treatment ISO
IEP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15286066 PMID:19339912 PMID:26297122 RGD:13506955 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7138674 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2204052 NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IEP mRNA:increased expression:ovary (rat) RGD PMID:2149342 RGD:4889596 NCBI chr 2:186,169,864...186,175,984
Ensembl chr 2:186,169,863...186,175,999
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IEP mRNA:increased expression:skin (rat) RGD PMID:8027581 RGD:4889559 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6770916 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972
JBrowse link
G Pgr progesterone receptor susceptibility ISO RGD PMID:15807882 RGD:1601278 NCBI chr 8:6,072,673...6,131,552
Ensembl chr 8:6,072,673...6,131,344
JBrowse link
G Prl prolactin IEP
ISO
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:2880862 PMID:2948424 PMID:4001434 PMID:17303669 PMID:17303669 RGD:1642575 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
G Prlr prolactin receptor ISO ClinVar Annotator: match by term: Familial hyperprolactinemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:30575453 NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
JBrowse link
G Slc6a3 solute carrier family 6 member 3 treatment IEP RGD PMID:26297122 RGD:13506955 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 IEP mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 1:33,686,069...33,720,468
Ensembl chr 1:33,686,391...33,720,461
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 IEP mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
JBrowse link
G Th tyrosine hydroxylase treatment IEP protein:increased tyrosine nitration:hypothalamus, median eminence (rat) RGD PMID:21178126 PMID:26297122 RGD:5128768, RGD:13506955 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        acquired metabolic disease 2535
          hyperprolactinemia 16
            Chiari-Frommel Syndrome 0
            Galactorrhea-Hyperprolactinemia 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            hypothalamic disease 503
              pituitary gland disease 273
                hyperpituitarism 101
                  hyperprolactinemia 16
                    Chiari-Frommel Syndrome 0
                    Galactorrhea-Hyperprolactinemia 0
paths to the root