FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cortisone reductase deficiency 2 ID (Ontology) DOID:0090140 (Human Disease)
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.
Also Known As "CORTRD2"
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 Genes
 cortisone reductase deficiency 2       1
 for disease ribbon | cortisone reductase deficiency 2       1
 model of | cortisone reductase deficiency 2       1
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autosomal genetic disease
 |__autosomal dominant disease______
endocrine system disease            |
 |__cortisone reductase deficiency__|
                                    cortisone reductase deficiency 2  1 rec.
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Is a autosomal dominant disease
cortisone reductase deficiency
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Synonyms
  • "CORTRD2" EXACT OMO:0003012
Secondary IDs
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MIM:614662
NCI:C131084