corticosteroid-binding globulin deficiency

Summary

DOID:0090030 - corticosteroid-binding globulin deficiency

Disease Ontology 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.

Synonyms: CBG deficiency, transcortin deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: serpina6

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012675 - corticosteroid-binding globulin deficiency

MONDO:0012675 - corticosteroid-binding globulin deficiency

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): adrenal gland disease (is_a), monogenic disease (is_a)