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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
 broad_synonym: SERPINA6-related condition
 related_synonym: elevated corticosteroid-binding globulin
 xref: GARD:13101;   ICD10CM:E27.8;   MESH:C565152;   MIM:611489;   MONDO:0012675;   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 IAGP
EXP
ISS		 ClinVar Annotator: match by term: Corticosteroid-binding globulin deficiency
ClinVar Annotator: match by term: TRANSCORTIN DEFICIENCY
CTD Direct Evidence: marker/mechanism
OMIM:611489
ClinVar Annotator: match by term: SERPINA6-related condition
ClinVar Annotator: match by term: Corticosteroid-binding globulin deficiency | ClinVar Annotator: match by term: SERPINA6-related condition		 ClinVar
OMIM
CTD
MouseDO		 PMID:1504007 PMID:7061486 PMID:8212073 PMID:10634411 PMID:11502797 More... NCBI chr14:94,304,248...94,323,336
Ensembl chr14:94,304,248...94,323,389 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121157
    Pathological Conditions, Signs and Symptoms 68282
      Signs and Symptoms 45558
        Fatigue 9
          corticosteroid-binding globulin deficiency 1
Path 2
Term Annotations click to browse term
  disease 121157
    Developmental Disease 43255
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 36556
        genetic disease 34726
          monogenic disease 25267
            corticosteroid-binding globulin deficiency 1
paths to the root