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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 5
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Accession:DOID:0080497 term browser browse the term
Definition:A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: ODG5
 primary_id: MIM:617690


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ovarian dysgenesis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 5 OMIM
ClinVar		 PMID:17301727 PMID:20506135 PMID:25741868 PMID:25774885 PMID:28492532 More...
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15423
    Developmental Disease 13485
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12608
        genetic disease 12316
          monogenic disease 10529
            autosomal genetic disease 10079
              autosomal recessive disease 6772
                ovarian dysgenesis 5 1
Path 2
Term Annotations click to browse term
  disease 15423
    disease of anatomical entity 15092
      Urogenital Diseases 4851
        Female Urogenital Diseases and Pregnancy Complications 2559
          Female Urogenital Diseases 2106
            female reproductive system disease 2103
              Adnexal Diseases 1050
                ovarian disease 1041
                  Primary Ovarian Failure 170
                    46 XX gonadal dysgenesis 24
                      ovarian dysgenesis 5 1
paths to the root