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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 9
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Accession:DOID:9000760 term browser browse the term
Definition:Characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age. Caused by homozygous mutation in the SPIDR gene on chromosome 8q11.
Synonyms:exact_synonym: ODG9
 primary_id: OMIM:619665



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Ovarian Dysgenesis 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spidr scaffold protein involved in DNA repair ISO ClinVar Annotator: match by term: Ovarian dysgenesis 9 OMIM
ClinVar
PMID:25741868 PMID:27967308 PMID:34697795 NCBI chr11:84,766,593...85,007,597
Ensembl chr11:84,766,593...85,007,600
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      Urogenital Diseases 5193
        Urogenital Abnormalities 442
          disorder of sexual development 230
            46, XX Disorders of Sex Development 32
              46 XX gonadal dysgenesis 20
                Ovarian Dysgenesis 9 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      Urogenital Diseases 5193
        Female Urogenital Diseases and Pregnancy Complications 2425
          Female Urogenital Diseases 1975
            female reproductive system disease 1972
              Adnexal Diseases 901
                ovarian disease 892
                  Primary Ovarian Failure 166
                    46 XX gonadal dysgenesis 20
                      Ovarian Dysgenesis 9 1
paths to the root