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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:Premature Ovarian Failure 2a
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Accession:DOID:9001673 term browser browse the term
Synonyms:exact_synonym: POF2A
 primary_id: MESH:C564498;   RDO:0011954
 alt_id: OMIM:300511
For additional species annotation, visit the Alliance of Genome Resources.


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Premature Ovarian Failure 2a term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph2 diaphanous-related formin 2 ISO OMIM NCBI chr  X:99,722,910...100,363,228 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            X-linked monogenic disease 920
              Premature Ovarian Failure 2a 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Urogenital Diseases 4146
        Female Urogenital Diseases and Pregnancy Complications 1904
          Female Urogenital Diseases 1599
            female reproductive system disease 1595
              Adnexal Diseases 673
                ovarian disease 665
                  PRIMARY OVARIAN FAILURE 83
                    premature ovarian failure 77
                      Premature Ovarian Failure 2a 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.