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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar
OMIM
PMID:26485283 NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal recessive disease 4613
                ovarian dysgenesis 6 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Urogenital Diseases 4694
        Female Urogenital Diseases and Pregnancy Complications 2220
          Female Urogenital Diseases 1842
            female reproductive system disease 1838
              Adnexal Diseases 833
                ovarian disease 824
                  Primary Ovarian Failure 151
                    46 XX gonadal dysgenesis 19
                      ovarian dysgenesis 6 1
paths to the root