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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;   Adrenal Androgen Excess;   Adrenal Hyperandrogenism;   CORTRD
 primary_id: MESH:C536447
 alt_id: RDO:0002041
 xref: EFO:0009007;   GARD:9882;   MIM:PS604931


show annotations for term's descendants           Sort by:
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 5:165,717,456...165,753,158
Ensembl chr 5:160,438,697...160,470,171 		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 chr13:107,277,526...107,327,462
Ensembl chr13:104,728,539...104,788,687 		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 | ClinVar Annotator: match by term: H6PD-related condition OMIM
ClinVar		 PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 More... NCBI chr 5:165,717,456...165,753,158
Ensembl chr 5:160,438,697...160,470,171 		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
ISS		 OMIM:614662
ClinVar Annotator: match by term: Cortisone reductase deficiency 2 | ClinVar Annotator: match by term: HSD11B1-related condition		 OMIM
MouseDO
ClinVar		 PMID:21325058 PMID:25741868 PMID:28492532 NCBI chr13:107,277,526...107,327,462
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      Adrenogenital Syndrome 28
        hyperandrogenism 6
          cortisone reductase deficiency 2
            cortisone reductase deficiency 1 1
            cortisone reductase deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        Neurologic Manifestations 10450
          sensory system disease 7375
            skin disease 4319
              hair disease 332
                Hirsutism 12
                  cortisone reductase deficiency 2
                    cortisone reductase deficiency 1 1
                    cortisone reductase deficiency 2 1
paths to the root