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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;   NNT-RELATED CONDITION;   glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
 narrow_synonym: glucocorticoid deficiency 4 with mineralocorticoid deficiency
 primary_id: OMIM:614736


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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22634753 PMID:23474776 PMID:25741868 PMID:26070314 PMID:26548497 More... NCBI chr 2:51,411,413...51,505,125
Ensembl chr 2:51,411,413...51,504,823 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      endocrine system disease 6773
        adrenal gland disease 281
          Adrenal Insufficiency 182
            Glucocorticoid Deficiency 4 1
paths to the root