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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 1
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Accession:DOID:0080621 term browser browse the term
Definition:A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11. (DO)
Synonyms:exact_synonym: ACTH resistance;   FGD1;   GCCD1;   adrenal unresponsiveness to ACTH;   familial glucocorticoid deficiency 1
 primary_id: MESH:C565974
 alt_id: OMIM:202200
For additional species annotation, visit the Alliance of Genome Resources.



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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: Glucocorticoid deficiency 1 OMIM
ClinVar
PMID:7829641 PMID:8094489 PMID:8227361 PMID:8636348 PMID:10443676 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 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Nutritional and Metabolic Diseases 6747
      disease of metabolism 6747
        inherited metabolic disorder 4659
          steroid inherited metabolic disorder 55
            glucocorticoid deficiency 1 3
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal recessive disease 4613
                glucocorticoid deficiency 1 3
paths to the root