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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 7
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Accession:DOID:0080499 term browser browse the term
Definition:A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23. (DO)
Synonyms:exact_synonym: ODG7
 primary_id: OMIM:618117


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ovarian dysgenesis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042289 NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                ovarian dysgenesis 7 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2456
          Female Urogenital Diseases 2003
            female reproductive system disease 2000
              Adnexal Diseases 900
                ovarian disease 891
                  Primary Ovarian Failure 169
                    46 XX gonadal dysgenesis 20
                      ovarian dysgenesis 7 1
paths to the root