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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 9
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Accession:DOID:0080866 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22. (DO)
Synonyms:exact_synonym: HFM1-RELATED CONDITION;   POF9;   premature ovarian failure 9
 primary_id: MIM:615724


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primary ovarian insufficiency 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hfm1 helicase for meiosis 1 ISO ClinVar Annotator: match by term: HFM1-related condition | ClinVar Annotator: match by term: Premature ovarian failure 9 OMIM
ClinVar		 PMID:24597873 PMID:25741868 NCBI chr14:2,857,251...2,943,766
Ensembl chr14:2,856,599...2,939,238 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          monogenic disease 10925
            autosomal genetic disease 10412
              autosomal recessive disease 6971
                primary ovarian insufficiency 9 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Urogenital Diseases 5390
        Female Urogenital Diseases and Pregnancy Complications 2665
          Female Urogenital Diseases 2188
            female reproductive system disease 2185
              Adnexal Diseases 1074
                ovarian disease 1065
                  Primary Ovarian Failure 174
                    primary ovarian insufficiency 160
                      primary ovarian insufficiency 9 1
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