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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 disease characterized by absence of spontaneous pubertal development in females with elevated gonadotropin levels, small uterus, and absence of ovarian tissue on imaging studies.
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 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                ovarian dysgenesis 6 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Urogenital Diseases 4146
        Female Urogenital Diseases and Pregnancy Complications 1904
          Female Urogenital Diseases 1599
            female reproductive system disease 1595
              Adnexal Diseases 673
                ovarian disease 665
                  PRIMARY OVARIAN FAILURE 83
                    Ovarian Dysgenesis 10
                      ovarian dysgenesis 6 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.