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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 IAGP ClinVar Annotator: match by term: OVARIAN DYSGENESIS 7
ClinVar Annotator: match by term: Ovarian dysgenesis 7
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042289 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    Developmental Disease 36035
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33173
        genetic disease 32754
          monogenic disease 18191
            autosomal genetic disease 16464
              autosomal recessive disease 10148
                ovarian dysgenesis 7 1
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      Urogenital Diseases 6416
        Female Urogenital Diseases and Pregnancy Complications 2986
          Female Urogenital Diseases 2456
            female reproductive system disease 2453
              Adnexal Diseases 993
                ovarian disease 984
                  Primary Ovarian Failure 179
                    46 XX gonadal dysgenesis 22
                      ovarian dysgenesis 7 1
paths to the root