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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:Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency
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Accession:DOID:9009048 term browser browse the term
Synonyms:primary_id: MESH:C565977;   RDO:0014472

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Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101977414 steroid 21-hydroxylase ISO ClinVar Annotator: match by term: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency ClinVar PMID:12050257 PMID:23359698 PMID:25741868 PMID:29035424 PMID:30611409 More... NCBI chrNW_004936727:1,550,783...1,553,327
Ensembl chrNW_004936727:1,550,783...1,553,327 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      Adrenogenital Syndrome 23
        hyperandrogenism 7
          Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7058
          Urogenital Abnormalities 414
            disorder of sexual development 216
              Adrenogenital Syndrome 23
                hyperandrogenism 7
                  Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency 1
paths to the root