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ONTOLOGY REPORT - ANNOTATIONS


Term:corticosteroid-binding globulin deficiency
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Accession:DOID:0090030 term browser browse the term
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. (DO)
Synonyms:exact_synonym: CBG Deficiency;   Transcortin Deficiency
 narrow_synonym: TRANSCORTIN DEFICIENCY CORTICOSTEROID-BINDING GLOBULIN, ELEVATED
 primary_id: MESH:C565152;   RDO:0013876
 alt_id: OMIM:611489
 xref: GARD:13101;   ORDO:199247
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corticosteroid-binding globulin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpina6 serpin family A member 6 JBrowse link 6 127,523,948 127,534,178 RGD:7240710
RGD:8554872

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  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          corticosteroid-binding globulin deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.