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
Accession: DOID:12700
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 .
G
ABCC3
ATP binding cassette subfamily C member 3
ISO
protein:increased expression:liver
RGD
PMID:23486593
RGD:11535162
NCBI chr 9:26,551,953...26,596,330
Ensembl chr 9:26,551,268...26,595,646
G
DRD2
dopamine receptor D2
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15286066 PMID:19339912 PMID:26297122
RGD:13506955
NCBI chr 5:19,732,842...19,795,241
Ensembl chr 5:19,732,836...19,795,241
G
GAD1
glutamate decarboxylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7138674
NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824
G
GDNF
glial cell derived neurotrophic factor
treatment
ISO
RGD
PMID:20219648
RGD:405878070
NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
G
GNRH1
gonadotropin releasing hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2204052
NCBI chr25:32,038,631...32,043,192
Ensembl chr25:32,039,613...32,043,028
G
HSD3B2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
mRNA:increased expression:skin (rat)
RGD
PMID:8027581
RGD:4889559
NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062
G
LHB
luteinizing hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6770916
NCBI chr 1:107,382,855...107,384,029
G
PGR
progesterone receptor
susceptibility
ISO
RGD
PMID:15807882
RGD:1601278
NCBI chr21:447,197...552,511
Ensembl chr21:447,319...552,511
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 chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
G
PRLR
prolactin receptor
ISO
ClinVar Annotator: match by term: Familial hyperprolactinemia
OMIM ClinVar
PMID:25741868 PMID:30575453
NCBI chr 4:73,147,919...73,280,970
Ensembl chr 4:73,110,858...73,273,916
G
SLC6A3
solute carrier family 6 member 3
treatment
ISO
RGD
PMID:26297122
RGD:13506955
NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742
G
SRD5A1
steroid 5 alpha-reductase 1
ISO
mRNA:increased expression:prostate (rat)
RGD
PMID:18379994
RGD:4891877
NCBI chr34:7,118,814...7,144,828
Ensembl chr34:7,118,814...7,144,828
G
SRD5A2
steroid 5 alpha-reductase 2
ISO
mRNA:increased expression:prostate (rat)
RGD
PMID:18379994
RGD:4891877
NCBI chr17:25,017,113...25,056,156
Ensembl chr17:25,017,113...25,056,544
G
TH
tyrosine hydroxylase
treatment
ISO
protein:increased tyrosine nitration:hypothalamus, median eminence (rat)
RGD
PMID:21178126 PMID:26297122
RGD:13506955 RGD:5128768
NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602
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