FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term corticosteroid-binding globulin deficiency ID (Ontology) DOID:0090030 (Human Disease)
Definition An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.
Also Known As "CBG deficiency" ; "transcortin deficiency"
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 Genes
 corticosteroid-binding globulin deficiency      21
 for disease ribbon | corticosteroid-binding globulin deficiency      21
 model of | corticosteroid-binding globulin deficiency      21
Spanning Tree (Parents/Children)
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endocrine system disease
 |__adrenal gland disease__
genetic disease            |
 |__monogenic disease______|
                           corticosteroid-binding globulin deficiency  21 rec.
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Is a monogenic disease
adrenal gland disease
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Synonyms
  • "CBG deficiency" EXACT
    "transcortin deficiency" EXACT
Secondary IDs
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GARD:13101
ICD10CM:E27.8
MESH:C565152
MIM:611489
ORDO:199247