FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital adrenal insufficiency ID (Ontology) DOID:0050546 (Human Disease)
Definition An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.
Also Known As "Adrenal insufficiency, congenital, with 46,XY sex reversal" ; "ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE" ; "P450scc DEFICIENCY"
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 Genes
 congenital adrenal insufficiency      11
 for disease ribbon | congenital adrenal insufficiency      11
 model of | congenital adrenal insufficiency      11
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease___
 |__autosomal recessive disease__|
endocrine system disease         |
 |__adrenal gland disease________|
disease                          |
 |__physical disorder____________|
                                 congenital adrenal insufficiency  11 rec.
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Is a autosomal dominant disease
autosomal recessive disease
physical disorder
adrenal gland disease
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Synonyms
  • "Adrenal insufficiency, congenital, with 46,XY sex reversal" EXACT
    "ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE" EXACT
    "P450scc DEFICIENCY" EXACT
Secondary IDs
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MIM:613743