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ONTOLOGY REPORT - ANNOTATIONS


Term:hypogonadotropic hypogonadism
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Accession:DOID:0090070 term browser browse the term
Definition:A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. (OMIM)
Synonyms:exact_synonym: congenital idiopathic hypogonadotropic hypogonadism;   hypogonadotropic hypogonadism with or without anosmia;   isolated congenital gonadotropin deficiency
 primary_id: RDO:9000142
 xref: OMIM:PS147950;   ORDO:432
For additional species annotation, visit the Alliance of Genome Resources.


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hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 RGD:8554872
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
G Gnrhr gonadotropin releasing hormone receptor JBrowse link 14 23,480,462 23,498,450 RGD:8554872
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 JBrowse link 9 42,620,006 42,659,184 RGD:8554872
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:13592920
G Prokr2 prokineticin receptor 2 JBrowse link 3 125,006,180 125,021,020 RGD:8554872
G Rnf216 ring finger protein 216 JBrowse link 12 13,508,429 13,631,689 RGD:8554872
G Tac3 tachykinin precursor 3 JBrowse link 7 71,023,976 71,030,582 RGD:8554872
G Tacr3 tachykinin receptor 3 JBrowse link 2 240,021,152 240,118,971 RGD:8554872
Gordon Holmes syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf216 ring finger protein 216 JBrowse link 12 13,508,429 13,631,689 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 1 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 10 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tac3 tachykinin precursor 3 JBrowse link 7 71,023,976 71,030,582 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 11 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tacr3 tachykinin receptor 3 JBrowse link 2 240,021,152 240,118,971 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 12 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnrh1 gonadotropin releasing hormone 1 JBrowse link 15 44,441,856 44,446,064 RGD:9685133
RGD:8554872
RGD:7240710
RGD:9685137
RGD:9685134
G Gnrhr gonadotropin releasing hormone receptor JBrowse link 14 23,480,462 23,498,450 RGD:8554872
G Kctd9 potassium channel tetramerization domain containing 9 JBrowse link 15 44,411,591 44,439,645 RGD:8554872
G Tacr3 tachykinin receptor 3 JBrowse link 2 240,021,152 240,118,971 RGD:8554872
hypogonadotropic hypogonadism 13 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kiss1 KiSS-1 metastasis-suppressor JBrowse link 13 50,529,506 50,537,603 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 14 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr11 WD repeat domain 11 JBrowse link 1 202,770,810 202,816,336 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 15 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 JBrowse link 9 42,620,006 42,659,184 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 16 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sema3a semaphorin 3A JBrowse link 4 18,170,375 18,545,190 RGD:8554872
RGD:7240710
hypogonadotropic hypogonadism 17 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spry4 sprouty RTK signaling antagonist 4 JBrowse link 18 32,593,370 32,609,890 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 18 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il17rd interleukin 17 receptor D JBrowse link 16 2,670,471 2,737,271 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 19 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dusp6 dual specificity phosphatase 6 JBrowse link 7 41,475,163 41,479,393 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 2 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 20 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf17 fibroblast growth factor 17 JBrowse link 15 52,326,758 52,337,360 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 21 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flrt3 fibronectin leucine rich transmembrane protein 3 JBrowse link 3 134,684,446 134,696,586 RGD:7240710
RGD:8554872
G Macrod2 mono-ADP ribosylhydrolase 2 JBrowse link 3 135,729,839 136,422,082 RGD:8554872
hypogonadotropic hypogonadism 22 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fezf1 Fez family zinc finger 1 JBrowse link 4 50,309,281 50,312,608 RGD:8554872
RGD:7240710
hypogonadotropic hypogonadism 23 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lhb luteinizing hormone subunit beta JBrowse link 1 101,409,992 101,413,725 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 24 without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fshb follicle stimulating hormone subunit beta JBrowse link 3 98,088,321 98,092,131 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 3 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prokr2 prokineticin receptor 2 JBrowse link 3 125,006,180 125,021,020 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 4 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prok2 prokineticin 2 JBrowse link 4 132,157,556 132,171,244 RGD:8554872
RGD:7240710
hypogonadotropic hypogonadism 5 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 6 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:7240710
hypogonadotropic hypogonadism 7 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 RGD:8554872
G Axl Axl receptor tyrosine kinase JBrowse link 1 82,550,892 82,580,761 RGD:11554173
G Bbip1 BBSome interacting protein 1 JBrowse link 1 274,649,085 274,663,544 RGD:8554872
G Ccdc141 coiled-coil domain containing 141 JBrowse link 3 63,865,240 64,024,208 RGD:11554173
RGD:8554872
G Dusp6 dual specificity phosphatase 6 JBrowse link 7 41,475,163 41,479,393 RGD:11554173
G Fezf1 Fez family zinc finger 1 JBrowse link 4 50,309,281 50,312,608 RGD:11554173
G Fgf17 fibroblast growth factor 17 JBrowse link 15 52,326,758 52,337,360 RGD:11554173
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11567242
RGD:8554872
RGD:11567265
RGD:11567246
RGD:11567244
G Flrt3 fibronectin leucine rich transmembrane protein 3 JBrowse link 3 134,684,446 134,696,586 RGD:11554173
G Gnrh1 gonadotropin releasing hormone 1 JBrowse link 15 44,441,856 44,446,064 RGD:11554173
G Gnrhr gonadotropin releasing hormone receptor JBrowse link 14 23,480,462 23,498,450 RGD:7240710
RGD:8554872
RGD:11567265
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 JBrowse link 9 42,620,006 42,659,184 RGD:8554872
G Il17rd interleukin 17 receptor D JBrowse link 16 2,670,471 2,737,271 RGD:11554173
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor JBrowse link 3 2,262,173 2,270,996 RGD:11567265
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:11554173
RGD:8554872
G Prokr2 prokineticin receptor 2 JBrowse link 3 125,006,180 125,021,020 RGD:8554872
G Rnf216 ring finger protein 216 JBrowse link 12 13,508,429 13,631,689 RGD:8554872
G Sema3e semaphorin 3E JBrowse link 4 17,314,745 17,594,659 RGD:11554173
G Spry4 sprouty RTK signaling antagonist 4 JBrowse link 18 32,593,370 32,609,890 RGD:11554173
G Sra1 steroid receptor RNA activator 1 JBrowse link 18 29,494,004 29,497,232 RGD:11554173
G Tac3 tachykinin precursor 3 JBrowse link 7 71,023,976 71,030,582 RGD:8554872
G Tacr3 tachykinin receptor 3 JBrowse link 2 240,021,152 240,118,971 RGD:8554872
G Wdr11 WD repeat domain 11 JBrowse link 1 202,770,810 202,816,336 RGD:11554173
hypogonadotropic hypogonadism 8 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kiss1r KISS1 receptor JBrowse link 7 12,606,210 12,609,868 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 9 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor JBrowse link 3 2,262,173 2,270,996 RGD:7240710
RGD:8554872
Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11567239
RGD:11567241
RGD:11567240
Kallmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 RGD:11554173
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872
RGD:11554173
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
RGD:11554173
G Prok2 prokineticin 2 JBrowse link 4 132,157,556 132,171,244 RGD:11554173
G Prokr2 prokineticin receptor 2 JBrowse link 3 125,006,180 125,021,020 RGD:8554872
RGD:11554173
G Sox10 SRY-box transcription factor 10 JBrowse link 7 120,393,238 120,403,523 RGD:12832748
RGD:13592920
G Sra1 steroid receptor RNA activator 1 JBrowse link 18 29,494,004 29,497,232 RGD:8554872
G Wdr11 WD repeat domain 11 JBrowse link 1 202,770,810 202,816,336 RGD:13592920
Kallmann Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872
Kallmann Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      endocrine system disease 4819
        gonadal disease 858
          hypogonadism 111
            hypogonadotropic hypogonadism 36
              Gordon Holmes syndrome 1
              Kallmann syndrome + 9
              hypogonadotropic hypogonadism 10 with or without anosmia 1
              hypogonadotropic hypogonadism 11 with or without anosmia 1
              hypogonadotropic hypogonadism 12 with or without anosmia 4
              hypogonadotropic hypogonadism 13 with or without anosmia 1
              hypogonadotropic hypogonadism 14 with or without anosmia 1
              hypogonadotropic hypogonadism 15 with or without anosmia 1
              hypogonadotropic hypogonadism 16 with or without anosmia 1
              hypogonadotropic hypogonadism 17 with or without anosmia 1
              hypogonadotropic hypogonadism 18 with or without anosmia 1
              hypogonadotropic hypogonadism 19 with or without anosmia 1
              hypogonadotropic hypogonadism 2 with or without anosmia + 1
              hypogonadotropic hypogonadism 20 with or without anosmia 1
              hypogonadotropic hypogonadism 21 with or without anosmia 2
              hypogonadotropic hypogonadism 22 with or without anosmia 1
              hypogonadotropic hypogonadism 23 with or without anosmia 1
              hypogonadotropic hypogonadism 24 without anosmia 1
              hypogonadotropic hypogonadism 5 with or without anosmia + 1
              hypogonadotropic hypogonadism 6 with or without anosmia 1
              hypogonadotropic hypogonadism 7 with or without anosmia 24
              hypogonadotropic hypogonadism 8 with or without anosmia 1
              hypogonadotropic hypogonadism 9 with or without anosmia 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.