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ONTOLOGY REPORT - ANNOTATIONS


Term:cortisone reductase deficiency 1
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Accession:DOID:0090141 term browser browse the term
Definition:A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. (DO)
Synonyms:exact_synonym: CORTRD1
 primary_id: OMIM:604931
 alt_id: RDO:9003339
 xref: NCI:C131849
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cortisone reductase deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) JBrowse link 5 166,994,683 167,030,441 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  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 1 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 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.