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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:primary ovarian insufficiency 4
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Accession:DOID:0080861 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11. (DO)


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121159
    Developmental Disease 43253
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 36549
        genetic disease 34717
          monogenic disease 25259
            X-linked monogenic disease 2194
              ovarian dysgenesis 2 1
                primary ovarian insufficiency 4 0
Path 2
Term Annotations click to browse term
  disease 121159
    disease of anatomical entity 111930
      Urogenital Diseases 14367
        Female Urogenital Diseases and Pregnancy Complications 6028
          Female Urogenital Diseases 4990
            female reproductive system disease 4987
              Adnexal Diseases 1882
                ovarian disease 1873
                  Primary Ovarian Failure 202
                    46 XX gonadal dysgenesis 30
                      ovarian dysgenesis 2 1
                        primary ovarian insufficiency 4 0
paths to the root