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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: OMIM: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 IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 5 ClinVar
OMIM		 PMID:17301727 PMID:25741868 PMID:25774885 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18511
            autosomal genetic disease 16781
              autosomal recessive disease 10240
                ovarian dysgenesis 5 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Urogenital Diseases 6456
        Female Urogenital Diseases and Pregnancy Complications 2996
          Female Urogenital Diseases 2464
            female reproductive system disease 2461
              Adnexal Diseases 996
                ovarian disease 987
                  Primary Ovarian Failure 181
                    46 XX gonadal dysgenesis 22
                      ovarian dysgenesis 5 1
paths to the root