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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:ovarian dysgenesis 6
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Accession:DOID:0080498 term browser browse the term
Definition:A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15. (DO)
Synonyms:exact_synonym: ODG6
 primary_id: OMIM:618078


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ovarian dysgenesis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP107 nucleoporin 107 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 6 OMIM
ClinVar		 PMID:25741868 PMID:26485283 PMID:28492532 NCBI chr10:10,838,881...10,887,347
Ensembl chr10:10,838,944...10,887,197 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        genetic disease 17431
          monogenic disease 10125
            autosomal genetic disease 9332
              autosomal recessive disease 6467
                ovarian dysgenesis 6 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      Urogenital Diseases 4732
        Female Urogenital Diseases and Pregnancy Complications 2355
          Female Urogenital Diseases 1915
            female reproductive system disease 1912
              Adnexal Diseases 887
                ovarian disease 878
                  Primary Ovarian Failure 164
                    46 XX gonadal dysgenesis 19
                      ovarian dysgenesis 6 1
paths to the root