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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 8
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Accession:DOID:0080865 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22. (DO)
Synonyms:exact_synonym: POF8;   premature ovarian failure 8;   primary ovarian failure 8
 broad_synonym: STAG3-related condition
 xref: MIM:615723;   MONDO:0014321


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primary ovarian insufficiency 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stag3 STAG3 cohesin complex component ISO ClinVar Annotator: match by term: Premature ovarian failure 8 | ClinVar Annotator: match by term: STAG3-related condition OMIM
ClinVar		 PMID:24597867 PMID:25741868 PMID:28393351 PMID:28492532 PMID:30006057 NCBI chr12:22,398,291...22,428,548
Ensembl chr12:22,398,295...22,428,557 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        genetic disease 7261
          monogenic disease 4758
            autosomal genetic disease 4325
              autosomal recessive disease 2991
                primary ovarian insufficiency 8 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      Urogenital Diseases 4547
        Female Urogenital Diseases and Pregnancy Complications 2323
          Female Urogenital Diseases 1916
            female reproductive system disease 1913
              Adnexal Diseases 960
                ovarian disease 951
                  Primary Ovarian Failure 161
                    primary ovarian insufficiency 149
                      primary ovarian insufficiency 8 1
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