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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 insufficent production of glucocorticoids. (DO)
Synonyms:xref: OMIM:PS202200
For additional species annotation, visit the Alliance of Genome Resources.


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 ClinVar Annotator: match by term: ACTH resistance
ClinVar Annotator: match by term: Adrenal unresponsiveness to acth
ClinVar Annotator: match by OMIM:202200
OMIM
ClinVar
PMID:7829641, PMID:8094489, PMID:8227361, PMID:8636348, PMID:10443676, PMID:12213892, PMID:17128565, PMID:17223989, PMID:18407210, PMID:18492762, PMID:18504396, PMID:18840636, PMID:19170705, PMID:19558534, PMID:21932602, PMID:25741868, PMID:26650942, PMID:28492532 NCBI chr18:64,166,959...64,178,729
Ensembl chr18:64,167,191...64,177,729
JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: ACTH resistance ClinVar PMID:15654338, PMID:24033266 NCBI chr11:30,904,733...30,915,225
Ensembl chr11:30,904,733...30,915,225
JBrowse link
G Nnt nicotinamide nucleotide transhydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22634753 NCBI chr 2:52,189,523...52,283,095
Ensembl chr 2:52,189,529...52,282,548
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 ClinVar Annotator: match by term: Glucocorticoid deficiency 2
ClinVar Annotator: match by OMIM:607398
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:15654338, PMID:16868047, PMID:24033266, PMID:28492532 NCBI chr11:30,904,733...30,915,225
Ensembl chr11:30,904,733...30,915,225
JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Glucocorticoid deficiency 2 ClinVar PMID:28492532 NCBI chr11:30,916,740...30,977,423
Ensembl chr11:30,916,730...30,977,483
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 with or without mineralocorticoid deficiency
ClinVar Annotator: match by OMIM:614736
OMIM
ClinVar
PMID:22634753, PMID:23474776, PMID:25741868, PMID:26070314, PMID:26548497, PMID:27129361 NCBI chr 2:52,189,523...52,283,095
Ensembl chr 2:52,189,529...52,282,548
JBrowse link
Glucocorticoid Deficiency 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: GLUCOCORTICOID DEFICIENCY 5 OMIM
ClinVar
PMID:21247928, PMID:24601690, PMID:25741868, PMID:26300845, PMID:28492532 NCBI chr11:86,667,994...86,716,063
Ensembl chr11:86,667,997...86,716,254
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16084
    disease of anatomical entity 15332
      endocrine system disease 4984
        adrenal gland disease 175
          familial glucocorticoid deficiency 5
            Glucocorticoid Deficiency 2 2
            Glucocorticoid Deficiency 3 0
            Glucocorticoid Deficiency 4 1
            Glucocorticoid Deficiency 5 1
            glucocorticoid deficiency 1 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.