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ONTOLOGY REPORT - ANNOTATIONS


Term:46 XX gonadal dysgenesis
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Accession:DOID:14450 term browser browse the term
Definition:The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
Synonyms:exact_synonym: Gonadal Dysgenesis, XX Type;   Pure Gonadal Dysgenesis, 46,XX;   XX Gonadal Dysgenesis;   XXGD
 primary_id: MESH:D023961
 alt_id: RDO:0000364
 xref: NCI:C120197;   ORDO:243
For additional species annotation, visit the Alliance of Genome Resources.


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46 XX gonadal dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancl FA complementation group L JBrowse link 14 110,675,306 110,740,880 RGD:13592920
G Fshr follicle stimulating hormone receptor JBrowse link 6 12,796,383 12,997,817 RGD:1601232
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:11554173
46,XX Sex Reversal 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sry sex determining region Y JBrowse link Y 327,176 327,685 RGD:7240710
RGD:8554872
46,XX Sex Reversal 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox9 SRY-box transcription factor 9 JBrowse link 10 101,288,528 101,294,030 RGD:8554872
RGD:7240710
D-bifunctional protein deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:1599968
RGD:10411884
RGD:7240710
Gonadal Dysgenesis, XX Type, with Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:7240710
RGD:8554872
RGD:11554173
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
ovarian dysgenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp15 bone morphogenetic protein 15 JBrowse link X 17,016,831 17,021,894 RGD:7240710
RGD:8554872
ovarian dysgenesis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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
ovarian dysgenesis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor JBrowse link 20 34,818,093 34,930,157 RGD:7240710
RGD:8554872
ovarian dysgenesis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 JBrowse link 3 3,290,766 3,295,226 RGD:8554872
RGD:7240710
ovarian dysgenesis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup107 nucleoporin 107 JBrowse link 7 60,781,724 60,825,225 RGD:8554872
RGD:7240710
ovarian dysgenesis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
RGD:7240710
ovarian dysgenesis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      endocrine system disease 4803
        gonadal disease 846
          sex development disorder 100
            gonadal dysgenesis 42
              46 XX gonadal dysgenesis 14
                46,XX Gonadal Dysgenesis Epibulbar Dermoid 0
                46,XX Sex Reversal 1 1
                46,XX Sex Reversal 2 1
                46,XX Sex Reversal 3 0
                46,Xx Gonadal Dysgenesis, Partial Or Complete, Autosomal 0
                Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 0
                Gonadal Dysgenesis, XX Type, with Deafness + 1
                ovarian dysgenesis 1 1
                ovarian dysgenesis 2 1
                ovarian dysgenesis 3 2
                ovarian dysgenesis 4 1
                ovarian dysgenesis 5 1
                ovarian dysgenesis 6 1
                ovarian dysgenesis 7 1
                ovarian dysgenesis 8 1
Path 2
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        Congenital Abnormalities 3601
          Urogenital Abnormalities 231
            sex development disorder 100
              46, XX Disorders of Sex Development 24
                46 XX gonadal dysgenesis 14
                  46,XX Gonadal Dysgenesis Epibulbar Dermoid 0
                  46,XX Sex Reversal 1 1
                  46,XX Sex Reversal 2 1
                  46,XX Sex Reversal 3 0
                  46,Xx Gonadal Dysgenesis, Partial Or Complete, Autosomal 0
                  Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 0
                  Gonadal Dysgenesis, XX Type, with Deafness + 1
                  ovarian dysgenesis 1 1
                  ovarian dysgenesis 2 1
                  ovarian dysgenesis 3 2
                  ovarian dysgenesis 4 1
                  ovarian dysgenesis 5 1
                  ovarian dysgenesis 6 1
                  ovarian dysgenesis 7 1
                  ovarian dysgenesis 8 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.