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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

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Path 1
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal recessive disease 2342
                ovarian dysgenesis 1 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      Urogenital Diseases 4032
        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 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.