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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
OMIM
ClinVar
PMID:7061486, PMID:8212073, PMID:10634411, PMID:11502797, PMID:12780753, PMID:17245537 NCBI chr 6:127,523,948...127,534,178
Ensembl chr 6:127,523,906...127,534,247
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Pathological Conditions, Signs and Symptoms 8739
      Signs and Symptoms 5235
        Fatigue 9
          corticosteroid-binding globulin deficiency 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            corticosteroid-binding globulin deficiency 1
paths to the root

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