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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer resistance IAGP DNA:polymorphism:cds:p148G>R RGD PMID:12917504 RGD:1625428 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO mRNA, protein:increased expression:ovary follicle (rat) RGD PMID:20813360 RGD:8553031 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		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 IAGP
EXP 		DNA:point mutation:CDS:p.R453Q (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:12858176 RGD:1625067 NCBI chr 1:9,234,774...9,271,337
Ensembl chr 1:9,234,774...9,271,337 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 IAGP
EXP 		DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:25526675 PMID:12858176 RGD:1625067 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		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 IAGP ClinVar Annotator: match by term: Cortisone reductase deficiency 1
ClinVar Annotator: match by term: H6PD-related condition
ClinVar Annotator: match by term: Cortisone reductase deficiency 1 | ClinVar Annotator: match by term: H6PD-related condition 		ClinVar
OMIM		 PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 More... NCBI chr 1:9,234,774...9,271,337
Ensembl chr 1:9,234,774...9,271,337 		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 IAGP
ISS 		ClinVar Annotator: match by term: HSD11B1-related condition
ClinVar Annotator: match by term: Cortisone reductase deficiency 2
OMIM:614662 		OMIM
ClinVar
MouseDO		 PMID:21325058 PMID:25741868 PMID:28492532 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		JBrowse link
G HSD11B1-AS1 HSD11B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cortisone reductase deficiency 2
ClinVar Annotator: match by term: HSD11B1-related condition 		ClinVar PMID:21325058 PMID:25741868 PMID:28492532 NCBI chr 1:209,661,359...209,742,562
Ensembl chr 1:209,661,354...209,757,643 		JBrowse link
Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP21A2 cytochrome P450 family 21 subfamily A member 2 IAGP ClinVar Annotator: match by term: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency ClinVar PMID:12050257 PMID:23359698 PMID:25741868 PMID:29035424 PMID:30611409 More... NCBI chr 6:32,038,415...32,041,644
Ensembl chr 6:32,038,327...32,041,644 		JBrowse link
G LOC106780800 CYP21A2 recombination region IAGP ClinVar Annotator: match by term: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency ClinVar PMID:12050257 PMID:23359698 PMID:25741868 PMID:29035424 PMID:30611409 More... NCBI chr 6:32,037,872...32,041,144 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 IAGP
EXP 		ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism
ClinVar Annotator: match by term: MULLERIAN DUCT FAILURE AND HYPERANDROGENISM | ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:12016514 PMID:15317892 PMID:16959810 PMID:18182450 PMID:18987495 More... NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151455
    syndrome 39471
      Adrenogenital Syndrome 41
        hyperandrogenism 9
          HAIR-AN syndrome 0
          Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency 2
          Mullerian aplasia and hyperandrogenism 1
          Ovarian Hyperandrogenism 0
          cortisone reductase deficiency + 3
Path 2
Term Annotations click to browse term
  disease 151455
    Developmental Disease 49490
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 42969
        Congenital Abnormalities 16637
          Urogenital Abnormalities 642
            disorder of sexual development 301
              Adrenogenital Syndrome 41
                hyperandrogenism 9
                  HAIR-AN syndrome 0
                  Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency 2
                  Mullerian aplasia and hyperandrogenism 1
                  Ovarian Hyperandrogenism 0
                  cortisone reductase deficiency + 3
paths to the root