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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 16
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Accession:DOID:0080873 term browser browse the term
Definition:A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25. (DO)
Synonyms:exact_synonym: POF16;   premature ovarian failure 16
 primary_id: OMIM:618723
For additional species annotation, visit the Alliance of Genome Resources.


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primary ovarian insufficiency 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bnc1 basonuclin 1 ISO ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 16
ClinVar Annotator: match by term: Premature ovarian failure 16
OMIM
ClinVar
PMID:10909 PMID:25741868 NCBI chr 1:143,793,280...143,818,748
NCBI chr 1:143,869,440...143,878,077
Ensembl chr 1:143,793,064...143,818,706
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            autosomal genetic disease 6276
              autosomal dominant disease 4450
                primary ovarian insufficiency 16 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Urogenital Diseases 4320
        Female Urogenital Diseases and Pregnancy Complications 2030
          Female Urogenital Diseases 1731
            female reproductive system disease 1727
              Adnexal Diseases 795
                ovarian disease 786
                  PRIMARY OVARIAN FAILURE 143
                    primary ovarian insufficiency 137
                      primary ovarian insufficiency 16 1
paths to the root