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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 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                ovarian dysgenesis 8 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        Female Urogenital Diseases and Pregnancy Complications 1913
          Female Urogenital Diseases 1619
            female reproductive system disease 1615
              Adnexal Diseases 711
                ovarian disease 703
                  PRIMARY OVARIAN FAILURE 137
                    Ovarian Dysgenesis 10
                      ovarian dysgenesis 8 1
paths to the root