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: GONADAL DYSGENESIS, XX TYPE;   ODG1;   OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE;   OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE;   OVARIAN FAILURE, HYPERGONADOTROPIC;   Ovarian Dysgenesis I;   XX GONADAL DYSGENESIS;   XXGD
 primary_id: OMIM:233300
 alt_id: DOID:9008711;   RDO:0008309
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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

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Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      endocrine system disease 4666
        gonadal disease 808
          ovarian disease 593
            Ovarian Dysgenesis 9
              ovarian dysgenesis 1 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Urogenital Diseases 3777
        Female Urogenital Diseases and Pregnancy Complications 1534
          Female Urogenital Diseases 1285
            female reproductive system disease 1281
              Adnexal Diseases 599
                ovarian disease 593
                  Ovarian Dysgenesis 9
                    ovarian dysgenesis 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.