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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 8
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Accession:DOID:0080500 term browser browse the term
Definition:A disease characterized by complete lack of estrogen action, resulting in absent breast development, primary amenorrhea, and osteoporosis.
Synonyms:exact_synonym: ODG8
 primary_id: OMIM:618187
For additional species annotation, visit the Alliance of Genome Resources.



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ovarian dysgenesis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr2 estrogen receptor 2 ISO ClinVar Annotator: match by term: OVARIAN DYSGENESIS 8 ClinVar
OMIM
PMID:30113650 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                ovarian dysgenesis 8 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Urogenital Diseases 4386
        Female Urogenital Diseases and Pregnancy Complications 2068
          Female Urogenital Diseases 1762
            female reproductive system disease 1758
              Adnexal Diseases 806
                ovarian disease 797
                  PRIMARY OVARIAN FAILURE 144
                    Ovarian Dysgenesis 10
                      ovarian dysgenesis 8 1
paths to the root