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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 1
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Accession:DOID:0090141 term browser browse the term
Definition:A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. (DO)
Synonyms:exact_synonym: CORTRD1
 primary_id: OMIM:604931
 alt_id: RDO:9003339
 xref: NCI:C131849
For additional species annotation, visit the Alliance of Genome Resources.



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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 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        lipid metabolism disorder 1161
          steroid inherited metabolic disorder 56
            cortisone reductase deficiency 2
              cortisone reductase deficiency 1 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        sensory system disease 6393
          skin disease 3775
            hair disease 257
              Hirsutism 12
                cortisone reductase deficiency 2
                  cortisone reductase deficiency 1 1
paths to the root