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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 4
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Accession:DOID:9005904 term browser browse the term
Synonyms:exact_synonym: GCCD4;   glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
 narrow_synonym: glucocorticoid deficiency 4 with mineralocorticoid deficiency
 broad_synonym: NNT-related condition
 xref: MIM:614736;   MONDO:0013874



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Glucocorticoid Deficiency 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nnt nicotinamide nucleotide transhydrogenase ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 4 | ClinVar Annotator: match by term: NNT-related condition OMIM
ClinVar
PMID:22634753 PMID:23474776 PMID:25741868 PMID:26070314 PMID:26548497 More... NCBI chr13:119,472,063...119,545,793
Ensembl chr13:119,471,984...119,545,533
Ensembl chr13:119,471,984...119,545,533
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16225
    disease of anatomical entity 15844
      endocrine system disease 6544
        adrenal gland disease 293
          Adrenal Insufficiency 189
            Glucocorticoid Deficiency 4 1
paths to the root