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Disease Ontology Browser
corticosteroid-binding globulin deficiency (DOID:0090030)
Alliance: disease page
Synonyms: CBG deficiency; transcortin deficiency
Alt IDs: OMIM:611489, ICD10CM:E27.8, MESH:C565152, ORDO:199247
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory