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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature ovarian failure 11		 CTD
ClinVar
OMIM		 PMID:9443879 PMID:10196384 PMID:10767341 PMID:18414213 PMID:18628313 More... NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal dominant disease 6310
                primary ovarian insufficiency 11 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2457
          Female Urogenital Diseases 2004
            female reproductive system disease 2001
              Adnexal Diseases 905
                ovarian disease 896
                  Primary Ovarian Failure 169
                    primary ovarian insufficiency 158
                      primary ovarian insufficiency 11 1
paths to the root