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ONTOLOGY REPORT - ANNOTATIONS


Term:ovarian dysgenesis 1
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Accession:DOID:0080493 term browser browse the term
Definition:A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16. (DO)
Synonyms:exact_synonym: ODG1;   OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE;   OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE;   OVARIAN FAILURE, HYPERGONADOTROPIC;   Ovarian Dysgenesis I
 primary_id: OMIM:233300
 alt_id: DOID:9008711;   RDO:0008309
For additional species annotation, visit the Alliance of Genome Resources.


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ovarian dysgenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fshr follicle stimulating hormone receptor JBrowse link 6 12,796,383 12,997,817 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      endocrine system disease 4810
        gonadal disease 849
          ovarian disease 643
            Ovarian Dysgenesis 9
              ovarian dysgenesis 1 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      Urogenital Diseases 3981
        Female Urogenital Diseases and Pregnancy Complications 1725
          Female Urogenital Diseases 1466
            female reproductive system disease 1462
              Adnexal Diseases 649
                ovarian disease 643
                  Ovarian Dysgenesis 9
                    ovarian dysgenesis 1 1
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