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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
For additional species annotation, visit the Alliance of Genome Resources.


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primary ovarian insufficiency 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Premature ovarian failure 11 ClinVar
OMIM
PMID:9443879 PMID:10767341 PMID:18414213 PMID:18628313 PMID:19894250 PMID:22661500 PMID:22904069 PMID:25136123 PMID:25741868 PMID:25820262 PMID:26218421 PMID:27186691 PMID:28492532 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                primary ovarian insufficiency 11 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      Urogenital Diseases 4317
        Female Urogenital Diseases and Pregnancy Complications 2026
          Female Urogenital Diseases 1727
            female reproductive system disease 1723
              Adnexal Diseases 795
                ovarian disease 786
                  PRIMARY OVARIAN FAILURE 143
                    primary ovarian insufficiency 137
                      primary ovarian insufficiency 11 1
paths to the root