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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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 ISO ClinVar Annotator: match by OMIM:611489
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Corticosteroid-binding globulin deficiency
OMIM
ClinVar
PMID:7061486 PMID:8212073 PMID:10634411 PMID:11502797 PMID:12780753 More... NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Signs and Symptoms 6531
        Fatigue 8
          corticosteroid-binding globulin deficiency 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            corticosteroid-binding globulin deficiency 1
paths to the root