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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:cytochrome P450 oxidoreductase deficiency
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Accession:DOID:0080925 term browser browse the term
Definition:A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. (DO)
Synonyms:exact_synonym: DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY;   Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency;   congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
 primary_id: OMIM:613571
 xref: GARD:12664;   NCI:131302
For additional species annotation, visit the Alliance of Genome Resources.



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cytochrome P450 oxidoreductase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency ClinVar
OMIM
PMID:9360545 PMID:12116245 PMID:14758361 PMID:15220035 PMID:15350602 More... NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
G Tmem120a transmembrane protein 120A ISO ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency ClinVar NCBI chr12:20,942,243...20,950,908
Ensembl chr12:20,942,439...20,990,316
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          steroid inherited metabolic disorder 53
            cytochrome P450 oxidoreductase deficiency 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                cytochrome P450 oxidoreductase deficiency 2
paths to the root