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DO Term : corticosteroid-binding globulin deficiency [DOID:0090030] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:611489,
  • transcortin deficiency,
  • CBG deficiency,
  • GARD:13101,
  • 611489,
  • ORDO:199247,
  • MESH:C565152,
  • ICD10CM:E27.8
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