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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, sub-family C member 3 ISO protein:increased expression:liver RGD PMID:23486593 RGD:11535162 NCBI chr11:94,234,121...94,283,843
Ensembl chr11:94,234,121...94,283,823 		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 9:49,251,703...49,319,468
Ensembl chr 9:49,251,927...49,319,477 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7138674 NCBI chr 2:70,392,109...70,432,358
Ensembl chr 2:70,383,416...70,432,358 		JBrowse link
G Gdnf glial cell line derived neurotrophic factor treatment ISO RGD PMID:20219648 RGD:405878070 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2204052 NCBI chr14:67,982,717...67,986,889
Ensembl chr14:67,982,630...67,986,888 		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 3:98,749,672...98,767,110
Ensembl chr 3:98,759,510...98,767,110 		JBrowse link
G Hsd3b6 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6 ISO mRNA:increased expression:skin (rat) RGD PMID:8027581 RGD:4889559 NCBI chr 3:98,712,820...98,721,759
Ensembl chr 3:98,712,820...98,721,759 		JBrowse link
G Lhb luteinizing hormone beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:6770916 NCBI chr 7:45,070,370...45,071,278
Ensembl chr 7:45,070,244...45,071,321 		JBrowse link
G Pgr progesterone receptor susceptibility ISO RGD PMID:15807882 RGD:1601278 NCBI chr 9:8,890,017...8,968,612
Ensembl chr 9:8,899,834...8,968,612 		JBrowse link
G Prl prolactin 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 chr13:27,241,553...27,249,187
Ensembl chr13:27,241,553...27,249,188 		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 chr15:10,177,324...10,349,276
Ensembl chr15:10,177,324...10,349,266 		JBrowse link
G Slc6a3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 treatment ISO RGD PMID:26297122 RGD:13506955 NCBI chr13:73,684,270...73,726,791
Ensembl chr13:73,684,866...73,726,791 		JBrowse link
G Srd5a1 steroid 5 alpha-reductase 1 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr13:69,721,568...69,759,611
Ensembl chr13:69,721,568...69,759,561 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO mRNA:increased expression:prostate (rat) RGD PMID:18379994 RGD:4891877 NCBI chr17:74,321,886...74,354,855
Ensembl chr17:74,323,950...74,354,911 		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 chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16225
    Nutritional and Metabolic Diseases 7678
      disease of metabolism 7678
        acquired metabolic disease 2376
          hyperprolactinemia 15
            Chiari-Frommel Syndrome 0
            Galactorrhea-Hyperprolactinemia 0
Path 2
Term Annotations click to browse term
  disease 16225
    disease of anatomical entity 15844
      nervous system disease 13766
        central nervous system disease 12282
          brain disease 11533
            hypothalamic disease 483
              pituitary gland disease 249
                hyperpituitarism 100
                  hyperprolactinemia 15
                    Chiari-Frommel Syndrome 0
                    Galactorrhea-Hyperprolactinemia 0
paths to the root