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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 4:72,128,931...72,134,436
Ensembl chr 4:72,128,931...72,134,436 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        genetic disease 13375
          monogenic disease 10925
            autosomal genetic disease 10413
              autosomal dominant disease 6762
                primary ovarian insufficiency 5 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Urogenital Diseases 5391
        Female Urogenital Diseases and Pregnancy Complications 2667
          Female Urogenital Diseases 2190
            female reproductive system disease 2187
              Adnexal Diseases 1075
                ovarian disease 1066
                  Primary Ovarian Failure 174
                    primary ovarian insufficiency 160
                      primary ovarian insufficiency 5 1
paths to the root