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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: 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          steroid inherited metabolic disorder 49
            glucocorticoid deficiency 1 3
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                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.