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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 Deficiency 5
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Accession:DOID:9009066 term browser browse the term
Definition:A disease that is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation. (OMIM)
Synonyms:exact_synonym: GCCD5;   TXNRD2-RELATED CONDITION
 primary_id: MIM:617825


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Glucocorticoid Deficiency 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 5 | ClinVar Annotator: match by term: TXNRD2-related condition OMIM
ClinVar		 PMID:16199547 PMID:21247928 PMID:24601690 PMID:25741868 PMID:26300845 More... NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      endocrine system disease 7029
        adrenal gland disease 293
          Adrenal Insufficiency 192
            Glucocorticoid Deficiency 5 2
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