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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 5
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Accession:DOID:0080862 term browser browse the term
Definition:A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35. (DO)
Synonyms:exact_synonym: NOBOX-RELATED CONDITION;   POF5;   premature ovarian failure 5
 xref: MESH:C566921;   MIM:611548;   MONDO:0012689


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primary ovarian insufficiency 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nobox NOBOX oogenesis homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Premature ovarian failure 5		 OMIM
CTD
ClinVar		 PMID:17701902 PMID:18930203 PMID:21837770 PMID:24103315 PMID:25514101 More... NCBI chr 4:73,128,926...73,134,431 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19136
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13377
          monogenic disease 10927
            autosomal genetic disease 10414
              autosomal dominant disease 6762
                primary ovarian insufficiency 5 1
Path 2
Term Annotations click to browse term
  disease 19136
    disease of anatomical entity 18448
      Urogenital Diseases 5391
        Female Urogenital Diseases and Pregnancy Complications 2668
          Female Urogenital Diseases 2191
            female reproductive system disease 2188
              Adnexal Diseases 1076
                ovarian disease 1067
                  Primary Ovarian Failure 175
                    primary ovarian insufficiency 161
                      primary ovarian insufficiency 5 1
paths to the root