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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:cortisone reductase deficiency
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Accession:DOID:0090139 term browser browse the term
Definition:An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism. (DO)
Synonyms:exact_synonym: 11-beta-hydroxysteroid dehydrogenase, type i, deficiency of;   CORTRD
 primary_id: MESH:C536447
 alt_id: RDO:0002041
 xref: GARD:9882;   OMIM:PS604931
For additional species annotation, visit the Alliance of Genome Resources.



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cortisone reductase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO DNA:point mutation:CDS:p.R453Q (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12858176 RGD:1625067 NCBI chr 4:150,063,931...150,093,480
Ensembl chr 4:150,063,932...150,093,480
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25526675 PMID:12858176 RGD:1625067 NCBI chr 1:192,903,948...192,946,353
Ensembl chr 1:192,903,942...192,946,383
JBrowse link
cortisone reductase deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 1 OMIM
ClinVar
PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 More... NCBI chr 4:150,063,931...150,093,480
Ensembl chr 4:150,063,932...150,093,480
JBrowse link
cortisone reductase deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO
IEA
ClinVar Annotator: match by term: Cortisone reductase deficiency 2
OMIM:614662
OMIM
ClinVar
MouseDO
PMID:21325058 PMID:25741868 NCBI chr 1:192,903,948...192,946,353
Ensembl chr 1:192,903,942...192,946,383
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15270
    Nutritional and Metabolic Diseases 5919
      disease of metabolism 5919
        lipid metabolism disorder 1017
          steroid inherited metabolic disorder 55
            cortisone reductase deficiency 2
              cortisone reductase deficiency 1 1
              cortisone reductase deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 15270
    disease of anatomical entity 14918
      nervous system disease 12605
        sensory system disease 6190
          skin disease 3645
            hair disease 250
              Hirsutism 12
                cortisone reductase deficiency 2
                  cortisone reductase deficiency 1 1
                  cortisone reductase deficiency 2 1
paths to the root