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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
 broad_synonym: FANCM-RELATED CONDITION
 xref: MIM:618096;   MONDO:0054862


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15423
    Developmental Disease 13485
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12608
        genetic disease 12316
          monogenic disease 10529
            autosomal genetic disease 10079
              autosomal recessive disease 6772
                primary ovarian insufficiency 15 1
Path 2
Term Annotations click to browse term
  disease 15423
    disease of anatomical entity 15092
      Urogenital Diseases 4851
        Female Urogenital Diseases and Pregnancy Complications 2559
          Female Urogenital Diseases 2106
            female reproductive system disease 2103
              Adnexal Diseases 1050
                ovarian disease 1041
                  Primary Ovarian Failure 170
                    primary ovarian insufficiency 156
                      primary ovarian insufficiency 15 1
paths to the root