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ONTOLOGY REPORT - ANNOTATIONS


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
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cortisone reductase deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 JBrowse link 13 111,946,626 111,996,536 RGD:7240710
RGD:8554872

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Path 1
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  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        lipid metabolism disorder 734
          steroid inherited metabolic disorder 47
            cortisone reductase deficiency 2
              cortisone reductase deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          skin disease 2461
            hair disease 228
              Hirsutism 6
                cortisone reductase deficiency 2
                  cortisone reductase deficiency 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.