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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
 primary_id: OMIM:614662
 alt_id: RDO:9000255
 xref: NCI:C131084
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:614662 OMIM
ClinVar
PMID:21325058 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        lipid metabolism disorder 900
          steroid inherited metabolic disorder 49
            cortisone reductase deficiency 2
              cortisone reductase deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            hair disease 262
              Hirsutism 9
                cortisone reductase deficiency 2
                  cortisone reductase deficiency 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.