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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: OMIM:618096
For additional species annotation, visit the Alliance of Genome Resources.


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primary ovarian insufficiency 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 15 OMIM
ClinVar
PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25741868 PMID:28492532 PMID:28837162 PMID:29231814 PMID:30075111 PMID:31700994 NCBI chr 6:86,823,195...86,877,067
Ensembl chr 6:86,823,684...86,876,633
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal recessive disease 3229
                primary ovarian insufficiency 15 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      Urogenital Diseases 4203
        Female Urogenital Diseases and Pregnancy Complications 1949
          Female Urogenital Diseases 1652
            female reproductive system disease 1648
              Adnexal Diseases 717
                ovarian disease 709
                  PRIMARY OVARIAN FAILURE 142
                    primary ovarian insufficiency 136
                      primary ovarian insufficiency 15 1
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