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 has_material_basis_in heterozygous mutation in the HSD11B1 gene on chromosome 1q32. (DO)
Synonyms:exact_synonym: CORTRD2
 primary_id: OMIM:614662
 alt_id: RDO:9000255
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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 1 193,221,640 193,264,049 RGD:7240710
RGD:8554872
RGD:13592920

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Path 1
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  disease 11832
    Nutritional and Metabolic Diseases 3371
      disease of metabolism 3371
        lipid metabolism disorder 602
          steroid inherited metabolic disorder 55
            cortisone reductase deficiency 2
              cortisone reductase deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 11832
    disease of anatomical entity 11283
      nervous system disease 8564
        sensory system disease 4038
          skin disease 2129
            hair disease 212
              Hirsutism 8
                cortisone reductase deficiency 2
                  cortisone reductase deficiency 2 1
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