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Human Disease

corticosteroid-binding globulin deficiency

Term ID
DOID:0090030
Synonyms
  • CBG deficiency
  • transcortin deficiency
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. (2)
References
Ontology
Human Disease   ( DOID:0090030 )
Relationships
is a type of
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Genes Involved
Zebrafish Models