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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 3
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Accession:DOID:0080860 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22. (DO)
Synonyms:exact_synonym: POF3;   premature ovarian failure 3
 primary_id: MESH:C563816
 alt_id: OMIM:608996
For additional species annotation, visit the Alliance of Genome Resources.


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primary ovarian insufficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by OMIM:608996
ClinVar Annotator: match by term: Premature ovarian failure 3
OMIM
ClinVar
PMID:12149404 PMID:12161610 PMID:19429596 PMID:25741868 PMID:29378385 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    Developmental Disease 10686
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9164
        genetic disease 8677
          monogenic disease 6660
            autosomal genetic disease 5814
              autosomal dominant disease 4101
                primary ovarian insufficiency 3 1
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      Urogenital Diseases 4256
        Female Urogenital Diseases and Pregnancy Complications 2017
          Female Urogenital Diseases 1722
            female reproductive system disease 1718
              Adnexal Diseases 795
                ovarian disease 786
                  PRIMARY OVARIAN FAILURE 143
                    primary ovarian insufficiency 137
                      primary ovarian insufficiency 3 1
paths to the root