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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
 xref: MIM:618078;   MONDO:0054850


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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 PMID:34707299 NCBI chr 7:55,239,610...55,285,050
Ensembl chr 7:55,239,613...55,285,234 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                ovarian dysgenesis 6 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Urogenital Diseases 5238
        Female Urogenital Diseases and Pregnancy Complications 2693
          Female Urogenital Diseases 2204
            female reproductive system disease 2201
              Adnexal Diseases 1086
                ovarian disease 1077
                  Primary Ovarian Failure 178
                    46 XX gonadal dysgenesis 26
                      ovarian dysgenesis 6 1
paths to the root