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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
JBrowse link
G Il6st interleukin 6 cytokine family signal transducer resistance ISO DNA:polymorphism:cds:p148G>R RGD PMID:12917504 RGD:1625428 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma IEP mRNA, protein:increased expression:ovary follicle (rat) RGD PMID:20813360 RGD:8553031 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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
ClinVar Annotator: match by OMIM:158330
OMIM
ClinVar
PMID:12016514 PMID:15317892 PMID:16959810 PMID:18182450 PMID:18987495 PMID:25741868 NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      Adrenogenital Syndrome 25
        hyperandrogenism 4
          HAIR-AN syndrome 0
          Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency 0
          Mullerian aplasia and hyperandrogenism 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        Congenital Abnormalities 5557
          Urogenital Abnormalities 324
            disorder of sexual development 162
              Adrenogenital Syndrome 25
                hyperandrogenism 4
                  HAIR-AN syndrome 0
                  Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency 0
                  Mullerian aplasia and hyperandrogenism 1
paths to the root