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ONTOLOGY REPORT - ANNOTATIONS


Term:ovarian dysgenesis 3
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Accession:DOID:0080495 term browser browse the term
Definition:A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21. (DO)
Synonyms:exact_synonym: ODG3
 primary_id: OMIM:614324
 alt_id: DOID:9005112;   RDO:9000626
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ovarian dysgenesis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlx MAX dimerization protein MLX JBrowse link 10 88,997,011 89,002,154 RGD:8554872
G Nrxn1 neurexin 1 JBrowse link 6 13,886,757 15,191,660 RGD:8554872
G Psmc3ip PSMC3 interacting protein JBrowse link 10 89,002,109 89,006,075 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal recessive disease 2338
                ovarian dysgenesis 3 3
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      Urogenital Diseases 4026
        Female Urogenital Diseases and Pregnancy Complications 1816
          Female Urogenital Diseases 1522
            female reproductive system disease 1518
              Adnexal Diseases 664
                ovarian disease 658
                  PRIMARY OVARIAN FAILURE 81
                    Ovarian Dysgenesis 10
                      ovarian dysgenesis 3 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.