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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 4
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Accession:DOID:0080496 term browser browse the term
Definition:A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22. (DO)
Synonyms:exact_synonym: ODG4
 primary_id: OMIM:616185
For additional species annotation, visit the Alliance of Genome Resources.


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ovarian dysgenesis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Ovarian dysgenesis 4 OMIM
ClinVar
PMID:25480036 PMID:26771056 PMID:31042289 NCBI chr20:34,818,093...34,930,157
Ensembl chr20:34,846,804...34,929,965
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                ovarian dysgenesis 4 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Urogenital Diseases 4175
        Female Urogenital Diseases and Pregnancy Complications 1923
          Female Urogenital Diseases 1621
            female reproductive system disease 1617
              Adnexal Diseases 672
                ovarian disease 664
                  PRIMARY OVARIAN FAILURE 84
                    Ovarian Dysgenesis 10
                      ovarian dysgenesis 4 1
paths to the root