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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:Glucocorticoid Receptor Deficiency
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Accession:DOID:9008669 term browser browse the term
Synonyms:exact_synonym: Body Composition, Beneficial;   Cortisol Resistance from Glucocorticoid Receptor Defect;   GCCR;   GCCR Deficiency;   GCR Deficiency;   GLUCOCORTICOID RESISTANCE, CELLULAR;   GLUCOCORTICOID RESISTANCE, GENERALIZED;   GRL Deficiency;   Glucocorticoid Resistance;   Glucocorticoid Resistance, Relative;   Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance
 xref: MESH:C564221;   MIM:615962;   MONDO:0014421;   NCI:C126809


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Glucocorticoid Receptor Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gcr deficiency | ClinVar Annotator: match by term: Glucocorticoid resistance | ClinVar Annotator: match by term: Glucocorticoid resistance, cellular | ClinVar Annotator: match by term: Glucocorticoid resistance, generalized | ClinVar Annotator: match by term: Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance		 OMIM
CTD
ClinVar		 PMID:186477 PMID:1704018 PMID:2996089 PMID:6282933 PMID:6841559 More... NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    Nutritional and Metabolic Diseases 8522
      disease of metabolism 8522
        inherited metabolic disorder 6608
          Glucocorticoid Receptor Deficiency 1
Path 2
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13535
        genetic disease 13198
          inherited metabolic disorder 6608
            Glucocorticoid Receptor Deficiency 1
paths to the root