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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 19
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Accession:DOID:0112278 term browser browse the term
Definition:A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in HSF2BP on chromosome 21q22. (DO)
Synonyms:exact_synonym: POF19;   POI19;   premature ovarian failure 19
 alt_id: DOID:9000665
 pimary_id: OMIM:619245
For additional species annotation, visit the Alliance of Genome Resources.



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primary ovarian insufficiency 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Premature ovarian failure 19 OMIM
ClinVar
PMID:25741868 PMID:32845237 NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                primary ovarian insufficiency 19 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Urogenital Diseases 4682
        Female Urogenital Diseases and Pregnancy Complications 2212
          Female Urogenital Diseases 1835
            female reproductive system disease 1831
              Adnexal Diseases 829
                ovarian disease 820
                  Primary Ovarian Failure 151
                    primary ovarian insufficiency 138
                      primary ovarian insufficiency 19 1
paths to the root