Search Ontology:
Human Disease
corticosteroid-binding globulin deficiency
- Term ID
- DOID:0090030
- Synonyms
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- 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
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- GARD:13101
- ICD10CM:E27.8
- MESH:C565152
- MIM:611489
- ORDO:199247
- Ontology
- Human Disease ( DOID:0090030 )
- is a type of
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Genes Involved
Zebrafish Models