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Metadata
ID	DOID:0090030
Name	corticosteroid-binding globulin 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. https://www.ncbi.nlm.nih.gov/pubmed/10634411, https://www.ncbi.nlm.nih.gov/pubmed/7061486
Xrefs	GARD:13101 ICD10CM:E27.8 MESH:C565152 MIM:611489 ORDO:199247
Subsets	DO_rare_slim
Synonyms	CBG deficiency [EXACT] transcortin deficiency [EXACT]
Parent Relationships	is_a adrenal gland disease is_a monogenic disease