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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 IAGP
EXP
DNA:point mutation:CDS:p.R453Q (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12858176 RGD:1625067 NCBI chr 1:9,234,774...9,271,337
Ensembl chr 1:9,234,774...9,271,337
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 IAGP
EXP
DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25526675 PMID:12858176 RGD:1625067 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
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 IAGP ClinVar Annotator: match by term: Cortisone reductase deficiency 1 ClinVar
OMIM
PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 More... NCBI chr 1:9,234,774...9,271,337
Ensembl chr 1:9,234,774...9,271,337
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 IAGP ClinVar Annotator: match by term: Cortisone reductase deficiency 2 ClinVar
OMIM
PMID:21325058 PMID:25741868 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
JBrowse link
G HSD11B1-AS1 HSD11B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cortisone reductase deficiency 2 ClinVar PMID:21325058 PMID:25741868 NCBI chr 1:209,661,359...209,742,562
Ensembl chr 1:209,661,356...209,724,125
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22067
    Nutritional and Metabolic Diseases 7386
      disease of metabolism 7386
        lipid metabolism disorder 1146
          steroid inherited metabolic disorder 75
            cortisone reductase deficiency 3
              cortisone reductase deficiency 1 1
              cortisone reductase deficiency 2 2
Path 2
Term Annotations click to browse term
  disease 22067
    disease of anatomical entity 20627
      nervous system disease 16526
        sensory system disease 7151
          skin disease 4043
            hair disease 272
              Hirsutism 14
                cortisone reductase deficiency 3
                  cortisone reductase deficiency 1 1
                  cortisone reductase deficiency 2 2
paths to the root