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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


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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
ISS		 ClinVar Annotator: match by term: Corticosteroid-binding globulin deficiency
CTD Direct Evidence: marker/mechanism
OMIM:611489		 OMIM
ClinVar
CTD
MouseDO		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    Pathological Conditions, Signs and Symptoms 13291
      Signs and Symptoms 10730
        Fatigue 8
          corticosteroid-binding globulin deficiency 1
Path 2
Term Annotations click to browse term
  disease 21108
    Developmental Disease 18429
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18284
        genetic disease 18227
          monogenic disease 10209
            corticosteroid-binding globulin deficiency 1
paths to the root