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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:hyperandrogenism
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Accession:DOID:11613 term browser browse the term
Definition:A condition caused by the excessive secretion of ANDROGENS from the ADRENAL CORTEX; the OVARIES; or the TESTES. The clinical significance in males is negligible. In women, the common manifestations are HIRSUTISM and VIRILISM as seen in patients with POLYCYSTIC OVARY SYNDROME and ADRENOCORTICAL HYPERFUNCTION.
Synonyms:exact_synonym: hyperandrogenization syndrome
 primary_id: MESH:D017588
 alt_id: RDO:0003503
 xref: EFO:0009006
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
hyperandrogenism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
JBrowse link
G Il6st interleukin 6 cytokine family signal transducer resistance ISO DNA:polymorphism:cds:p148G>R RGD PMID:12917504 RGD:1625428 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma IEP mRNA, protein:increased expression:ovary follicle (rat) RGD PMID:20813360 RGD:8553031 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
cortisone reductase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO DNA:point mutation:CDS:p.R453Q (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12858176 RGD:1625067 NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25526675 PMID:12858176 RGD:1625067 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
JBrowse link
cortisone reductase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 1 OMIM
ClinVar
PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 More... NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
JBrowse link
cortisone reductase deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 2 OMIM
ClinVar
PMID:21325058 PMID:25741868 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
JBrowse link
Mullerian aplasia and hyperandrogenism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism OMIM
ClinVar
PMID:12016514 PMID:15317892 PMID:16959810 PMID:18182450 PMID:18987495 More... NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    syndrome 9745
      Adrenogenital Syndrome 26
        hyperandrogenism 6
          HAIR-AN syndrome 0
          Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency 0
          Mullerian aplasia and hyperandrogenism 1
          Ovarian Hyperandrogenism 0
          cortisone reductase deficiency + 2
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        Congenital Abnormalities 6810
          Urogenital Abnormalities 383
            disorder of sexual development 213
              Adrenogenital Syndrome 26
                hyperandrogenism 6
                  HAIR-AN syndrome 0
                  Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency 0
                  Mullerian aplasia and hyperandrogenism 1
                  Ovarian Hyperandrogenism 0
                  cortisone reductase deficiency + 2
paths to the root