OBO ID: DOID:0090030
Term Name: corticosteroid-binding globulin deficiency Search Ontology:
Synonyms:
  • 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:
Ontology: Human Disease   ( DOID:0090030 )
Relationships
is a type of:
OTHER corticosteroid-binding globulin deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SERPINA6 Corticosteroid-binding globulin deficiency
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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