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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 JBrowse link X 8,396,742 8,594,270 RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 34,890,147 34,948,904 RGD:9068941
G GNRHR gonadotropin releasing hormone receptor JBrowse link 4 62,687,474 62,706,179 RGD:9068941
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 JBrowse link 2B 128,935,748 128,961,536 RGD:9068941
G NR5A1 nuclear receptor subfamily 5 group A member 1 JBrowse link 9 124,122,968 124,149,292 RGD:9068941
G PROKR2 prokineticin receptor 2 JBrowse link 20 5,102,578 5,108,979 RGD:9068941
G RNF216 ring finger protein 216 JBrowse link 7 5,891,909 6,051,979 RGD:9068941
G TAC3 tachykinin precursor 3 JBrowse link 12 32,164,278 32,170,834 RGD:9068941
G TACR3 tachykinin receptor 3 JBrowse link 4 106,644,943 106,776,172 RGD:9068941
Gordon Holmes syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNF216 ring finger protein 216 JBrowse link 7 5,891,909 6,051,979 RGD:7240710
RGD:9068941
hypogonadotropic hypogonadism 1 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANOS1 anosmin 1 JBrowse link X 8,396,742 8,594,270 RGD:9068941
RGD:7240710
hypogonadotropic hypogonadism 10 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAC3 tachykinin precursor 3 JBrowse link 12 32,164,278 32,170,834 RGD:7240710
RGD:9068941
hypogonadotropic hypogonadism 11 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TACR3 tachykinin receptor 3 JBrowse link 4 106,644,943 106,776,172 RGD:7240710
RGD:9068941
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 8 21,609,407 21,616,521 RGD:7240710
RGD:9068941
G GNRHR gonadotropin releasing hormone receptor JBrowse link 4 62,687,474 62,706,179 RGD:9068941
G KCTD9 potassium channel tetramerization domain containing 9 JBrowse link 8 21,618,042 21,648,309 RGD:9068941
G TACR3 tachykinin receptor 3 JBrowse link 4 106,644,943 106,776,172 RGD:9068941
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 1 184,080,570 184,087,378 RGD:7240710
RGD:9068941
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 10 120,845,695 120,903,540 RGD:7240710
RGD:9068941
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 2B 128,935,748 128,961,536 RGD:7240710
RGD:9068941
hypogonadotropic hypogonadism 16 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SEMA3A semaphorin 3A JBrowse link 7 89,590,353 89,827,253 RGD:7240710
RGD:9068941
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 5 143,778,785 143,793,518 RGD:7240710
RGD:9068941
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 3 58,234,422 58,309,480 RGD:7240710
RGD:9068941
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 12 90,195,482 90,200,321 RGD:7240710
RGD:9068941
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 8 34,890,147 34,948,904 RGD:7240710
RGD:9068941
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 8 18,224,453 18,233,537 RGD:7240710
RGD:9068941
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 20 14,279,967 14,293,632 RGD:7240710
RGD:9068941
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 7 126,995,708 127,005,733 RGD:7240710
RGD:9068941
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 19 54,738,139 54,739,424 RGD:7240710
RGD:9068941
hypogonadotropic hypogonadism 24 without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FSHB follicle stimulating hormone subunit beta JBrowse link 11 30,095,759 30,100,012 RGD:7240710
RGD:9068941
hypogonadotropic hypogonadism 3 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PROKR2 prokineticin receptor 2 JBrowse link 20 5,102,578 5,108,979 RGD:9068941
RGD:7240710
hypogonadotropic hypogonadism 4 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PROK2 prokineticin 2 JBrowse link 3 73,067,609 73,080,897 RGD:9068941
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 8 58,816,836 58,945,186 RGD:7240710
RGD:9068941
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 10 101,844,792 101,849,873 RGD:9068941
RGD:7240710
hypogonadotropic hypogonadism 7 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANOS1 anosmin 1 JBrowse link X 8,396,742 8,594,270 RGD:9068941
G AXL AXL receptor tyrosine kinase JBrowse link 19 46,719,615 46,761,747 RGD:9068941
G BBIP1 BBSome interacting protein 1 JBrowse link 10 110,941,118 110,961,596 RGD:9068941
G CCDC141 coiled-coil domain containing 141 JBrowse link 2B 183,789,681 184,009,800 RGD:9068941
G DUSP6 dual specificity phosphatase 6 JBrowse link 12 90,195,482 90,200,321 RGD:9068941
G FEZF1 FEZ family zinc finger 1 JBrowse link 7 126,995,708 127,005,733 RGD:9068941
G FGF17 fibroblast growth factor 17 JBrowse link 8 18,224,453 18,233,537 RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 34,890,147 34,948,904 RGD:9068941
G FLRT3 fibronectin leucine rich transmembrane protein 3 JBrowse link 20 14,279,967 14,293,632 RGD:9068941
G GNRH1 gonadotropin releasing hormone 1 JBrowse link 8 21,609,407 21,616,521 RGD:9068941
G GNRHR gonadotropin releasing hormone receptor JBrowse link 4 62,687,474 62,706,179 RGD:7240710
RGD:9068941
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 JBrowse link 2B 128,935,748 128,961,536 RGD:9068941
G IL17RD interleukin 17 receptor D JBrowse link 3 58,234,422 58,309,480 RGD:9068941
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor JBrowse link 9 137,482,420 137,495,951 RGD:9068941
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 19 7,683,241 7,710,444 RGD:9068941
G POLR3B RNA polymerase III subunit B JBrowse link 12 107,330,315 107,477,279 RGD:9068941
G PROKR2 prokineticin receptor 2 JBrowse link 20 5,102,578 5,108,979 RGD:9068941
G RNF216 ring finger protein 216 JBrowse link 7 5,891,909 6,051,979 RGD:9068941
G SEMA3E semaphorin 3E JBrowse link 7 88,994,889 89,274,073 RGD:9068941
G SPRY4 sprouty RTK signaling antagonist 4 JBrowse link 5 143,778,785 143,793,518 RGD:9068941
G SRA1 steroid receptor RNA activator 1 JBrowse link 5 142,032,113 142,040,137 RGD:9068941
G TAC3 tachykinin precursor 3 JBrowse link 12 32,164,278 32,170,834 RGD:9068941
G TACR3 tachykinin receptor 3 JBrowse link 4 106,644,943 106,776,172 RGD:9068941
G WDR11 WD repeat domain 11 JBrowse link 10 120,845,695 120,903,540 RGD:9068941
hypogonadotropic hypogonadism 8 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KISS1R KISS1 receptor JBrowse link 19 889,152 891,739 RGD:7240710
RGD:9068941
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 9 137,482,420 137,495,951 RGD:7240710
RGD:9068941
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 8 34,890,147 34,948,904 RGD:9068941
Kallmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANOS1 anosmin 1 JBrowse link X 8,396,742 8,594,270 RGD:9068941
G CHD7 chromodomain helicase DNA binding protein 7 JBrowse link 8 58,816,836 58,945,186 RGD:9068941
G FGF8 fibroblast growth factor 8 JBrowse link 10 101,844,792 101,849,873 RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 34,890,147 34,948,904 RGD:9068941
G PROK2 prokineticin 2 JBrowse link 3 73,067,609 73,080,897 RGD:9068941
G PROKR2 prokineticin receptor 2 JBrowse link 20 5,102,578 5,108,979 RGD:9068941
G SOX10 SRY-box transcription factor 10 JBrowse link 22 36,712,128 36,724,192 RGD:9068941
G SRA1 steroid receptor RNA activator 1 JBrowse link 5 142,032,113 142,040,137 RGD:9068941
G WDR11 WD repeat domain 11 JBrowse link 10 120,845,695 120,903,540 RGD:9068941
Kallmann Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHD7 chromodomain helicase DNA binding protein 7 JBrowse link 8 58,816,836 58,945,186 RGD:9068941
Kallmann Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGF8 fibroblast growth factor 8 JBrowse link 10 101,844,792 101,849,873 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11950
    disease of anatomical entity 11608
      endocrine system disease 3929
        gonadal disease 810
          hypogonadism 105
            hypogonadotropic hypogonadism 35
              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 1
              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.