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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 2
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Accession:DOID:9006725 term browser browse the term
Synonyms:exact_synonym: FGD2;   Familial Glucocorticoid Deficiency 2;   GCCD2;   MRAP-RELATED CONDITION
 primary_id: MESH:C564577
 alt_id: MIM:607398


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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 term: MRAP-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
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 2 2
paths to the root