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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:familial glucocorticoid deficiency
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Accession:DOID:0080620 term browser browse the term
Definition:An adrenal cortex disease that is characterized by insufficient production of glucocorticoids. (DO)
Synonyms:xref: MIM:PS202200


show annotations for term's descendants           Sort by:
glucocorticoid deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mc2r melanocortin 2 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACTH resistance | ClinVar Annotator: match by term: Glucocorticoid deficiency 1		 OMIM
CTD
ClinVar		 PMID:7829641 PMID:8069303 PMID:8094489 PMID:8227361 PMID:8250922 More... NCBI chr18:62,001,980...62,015,567
Ensembl chr18:62,004,948...62,015,488 		JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 1 ClinVar PMID:15654338 PMID:24033266 PMID:25741868 NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024 		JBrowse link
G Nnt nicotinamide nucleotide transhydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22634753 NCBI chr 2:51,411,413...51,505,125
Ensembl chr 2:51,411,413...51,504,823 		JBrowse link
Glucocorticoid Deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrap melanocortin 2 receptor accessory protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glucocorticoid deficiency 2 | ClinVar Annotator: match by term: MRAP-related condition		 OMIM
CTD
ClinVar		 PMID:15654338 PMID:16868047 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024 		JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 2 | ClinVar Annotator: match by term: MRAP-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363 		JBrowse link
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 chr 2:51,411,413...51,505,125
Ensembl chr 2:51,411,413...51,504,823 		JBrowse link
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 19100
    disease of anatomical entity 18440
      endocrine system disease 7030
        adrenal gland disease 293
          familial glucocorticoid deficiency 6
            Glucocorticoid Deficiency 2 2
            Glucocorticoid Deficiency 3 0
            Glucocorticoid Deficiency 4 1
            Glucocorticoid Deficiency 5 2
            glucocorticoid deficiency 1 3
paths to the root