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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 chr16:42,646,316...42,703,124
Ensembl chr16:42,646,812...42,702,852 		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 1:104,774,632...104,843,417
Ensembl chr 1:104,774,180...104,842,736 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7138674 NCBI chr10:56,351,495...56,396,476
Ensembl chr10:56,353,253...56,396,524 		JBrowse link
G GDNF glial cell derived neurotrophic factor treatment ISO RGD PMID:20219648 RGD:405878070 NCBI chr 4:36,662,033...36,691,761
Ensembl chr 4:36,665,009...36,684,257 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2204052 NCBI chr 8:23,543,717...23,550,728
Ensembl chr 8:23,542,806...23,547,771 		JBrowse link
G LHB luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6770916 NCBI chr 6:42,247,254...42,248,822 JBrowse link
G PGR progesterone receptor susceptibility ISO RGD PMID:15807882 RGD:1601278 NCBI chr 1:92,420,970...92,519,128
Ensembl chr 1:92,430,453...92,517,296 		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 chr17:49,922,750...49,938,084
Ensembl chr17:49,928,321...49,938,631 		JBrowse link
G PRLR prolactin receptor ISO ClinVar Annotator: match by term: Familial hyperprolactinemia OMIM
ClinVar		 PMID:25741868 PMID:30575453 NCBI chr 4:33,933,601...34,108,653
Ensembl chr 4:33,949,935...34,108,619 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 treatment ISO RGD PMID:26297122 RGD:13506955 NCBI chr 4:1,209,013...1,258,797
Ensembl chr 4:1,209,019...1,258,866 		JBrowse link
G SRD5A1 steroid 5 alpha-reductase 1 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr 4:6,312,770...6,348,449
Ensembl chr 4:6,312,757...6,350,550 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr14:75,915,495...75,971,280
Ensembl chr14:75,917,260...75,970,365 		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 1:1,969,194...1,977,263
Ensembl chr 1:1,966,460...1,977,218 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    Nutritional and Metabolic Diseases 7361
      disease of metabolism 7361
        acquired metabolic disease 2207
          hyperprolactinemia 13
            Chiari-Frommel Syndrome 0
            Galactorrhea-Hyperprolactinemia 0
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13213
        central nervous system disease 11794
          brain disease 11073
            hypothalamic disease 465
              pituitary gland disease 236
                hyperpituitarism 96
                  hyperprolactinemia 13
                    Chiari-Frommel Syndrome 0
                    Galactorrhea-Hyperprolactinemia 0
paths to the root