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| 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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endocrine system disease |__adrenal gland disease__ genetic disease | |__monogenic disease______| corticosteroid-binding globulin deficiency 21 rec. |
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monogenic disease adrenal gland disease |
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GARD:13101 ICD10CM:E27.8 MESH:C565152 MIM:611489 ORDO:199247 |
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