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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 15
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Accession:DOID:0080872 term browser browse the term
Definition:A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21. (DO)
Synonyms:exact_synonym: POF15;   premature ovarian failure 15
 primary_id: MIM:618096


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Path 1
Term Annotations click to browse term
  disease 15606
    Developmental Disease 13488
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12520
        genetic disease 12171
          monogenic disease 10220
            autosomal genetic disease 9435
              autosomal recessive disease 6583
                primary ovarian insufficiency 15 1
Path 2
Term Annotations click to browse term
  disease 15606
    disease of anatomical entity 15201
      Urogenital Diseases 4768
        Female Urogenital Diseases and Pregnancy Complications 2390
          Female Urogenital Diseases 1950
            female reproductive system disease 1947
              Adnexal Diseases 896
                ovarian disease 887
                  Primary Ovarian Failure 167
                    primary ovarian insufficiency 156
                      primary ovarian insufficiency 15 1
paths to the root