| 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/7061486, https://www.ncbi.nlm.nih.gov/pubmed/10634411 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CBG deficiency [EXACT] transcortin deficiency [EXACT] |
| Parent Relationships |
is_a monogenic disease |
| Subclass Logical Relationships |
disease has basis in some gene |