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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 11
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Accession:DOID:0080868 term browser browse the term
Definition:A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)
Synonyms:exact_synonym: POF11;   premature ovarian failure 11
 primary_id: OMIM:616946

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primary ovarian insufficiency 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO ClinVar Annotator: match by term: Premature ovarian failure 11 ClinVar
OMIM		 PMID:9443879 PMID:10196384 PMID:10767341 PMID:18414213 PMID:18628313 More... NCBI chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14206
    Developmental Disease 12386
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11607
        genetic disease 11298
          monogenic disease 9486
            autosomal genetic disease 8807
              autosomal dominant disease 5808
                primary ovarian insufficiency 11 1
Path 2
Term Annotations click to browse term
  disease 14206
    disease of anatomical entity 13864
      Urogenital Diseases 4409
        Female Urogenital Diseases and Pregnancy Complications 2204
          Female Urogenital Diseases 1823
            female reproductive system disease 1820
              Adnexal Diseases 845
                ovarian disease 838
                  Primary Ovarian Failure 162
                    primary ovarian insufficiency 152
                      primary ovarian insufficiency 11 1
paths to the root