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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 related_synonym: elevated corticosteroid-binding globulin
 primary_id: MESH:C565152
 alt_id: OMIM:611489
 xref: GARD:13101;   ICD10CM:E27.8;   ORDO:199247
For additional species annotation, visit the Alliance of Genome Resources.

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corticosteroid-binding globulin deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINA6 serpin family A member 6 IAGP ClinVar Annotator: match by term: Corticosteroid-binding globulin deficiency ClinVar
PMID:7061486, PMID:8212073, PMID:10634411, PMID:11502797, PMID:12780753, PMID:17245537 NCBI chr14:94,304,248...94,323,336
Ensembl chr14:94,304,248...94,323,389
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18836
    Pathological Conditions, Signs and Symptoms 9658
      Signs and Symptoms 5936
        Fatigue 10
          corticosteroid-binding globulin deficiency 1
Path 2
Term Annotations click to browse term
  disease 18836
    Developmental Diseases 12131
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9981
        genetic disease 9460
          monogenic disease 6898
            corticosteroid-binding globulin deficiency 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.