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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:cortisone reductase deficiency 2
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Accession:DOID:0090140 term browser browse the term
Definition:A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32. (DO)
Synonyms:exact_synonym: CORTRD2;   HSD11B1-RELATED CONDITION
 primary_id: MIM:614662
 xref: NCI:C131084



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cortisone reductase deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO
ISS
OMIM:614662
ClinVar Annotator: match by term: Cortisone reductase deficiency 2 | ClinVar Annotator: match by term: HSD11B1-related condition
OMIM
MouseDO
ClinVar
PMID:21325058 PMID:25741868 PMID:28492532 NCBI chr13:107,277,526...107,327,462
Ensembl chr13:104,728,539...104,788,687
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      Adrenogenital Syndrome 28
        hyperandrogenism 6
          cortisone reductase deficiency 2
            cortisone reductase deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        Congenital Abnormalities 7887
          Urogenital Abnormalities 461
            disorder of sexual development 240
              Adrenogenital Syndrome 28
                hyperandrogenism 6
                  cortisone reductase deficiency 2
                    cortisone reductase deficiency 2 1
paths to the root