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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 NW_004936644 722,849 839,723 RGD:9068941
G Fgfr1 fibroblast growth factor receptor 1 JBrowse link NW_004936710 1,760,365 1,815,269 RGD:9068941
G Gnrhr gonadotropin releasing hormone receptor JBrowse link NW_004936582 749,016 765,189 RGD:9068941
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 JBrowse link NW_004936469 43,039,494 43,086,041 RGD:9068941
G Nr5a1 nuclear receptor subfamily 5 group A member 1 JBrowse link NW_004936487 12,739,445 12,763,729 RGD:9068941
G Prokr2 prokineticin receptor 2 JBrowse link NW_004936485 13,620,000 13,632,134 RGD:9068941
G Rnf216 ring finger protein 216 JBrowse link NW_004936765 452,755 592,358 RGD:9068941
G Tac3 tachykinin precursor 3 JBrowse link NW_004936646 1,226,797 1,233,513 RGD:9068941
Gordon Holmes syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf216 ring finger protein 216 JBrowse link NW_004936765 452,755 592,358 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 NW_004936644 722,849 839,723 RGD:7240710
RGD:9068941
hypogonadotropic hypogonadism 10 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tac3 tachykinin precursor 3 JBrowse link NW_004936646 1,226,797 1,233,513 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 NW_004936757 1,282,185 1,285,804 RGD:7240710
RGD:9068941
G Gnrhr gonadotropin releasing hormone receptor JBrowse link NW_004936582 749,016 765,189 RGD:9068941
G Kctd9 potassium channel tetramerization domain containing 9 JBrowse link NW_004936757 1,250,089 1,276,089 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 NW_004936567 584,443 595,045 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 NW_004936486 10,007,728 10,061,640 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 NW_004936469 43,039,494 43,086,041 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 NW_004936504 11,907,667 11,922,487 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 NW_004936473 7,447,292 7,507,819 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 NW_004936507 6,309,114 6,314,512 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 NW_004936710 1,760,365 1,815,269 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 NW_004936555 5,869,156 5,877,674 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 NW_004936485 5,532,554 5,547,430 RGD:7240710
RGD:9068941
G Macrod2 mono-ADP ribosylhydrolase 2 JBrowse link NW_004936485 3,917,060 5,859,527 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 NW_004936605 3,027,138 3,030,442 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 NW_004936533 7,395,206 7,397,266 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 NW_004936485 13,620,000 13,632,134 RGD:7240710
RGD:9068941
hypogonadotropic hypogonadism 4 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prok2 prokineticin 2 JBrowse link NW_004936603 3,299,736 3,419,539 RGD:7240710
RGD:9068941
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 NW_004936496 12,381,225 12,505,121 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 NW_004936600 4,004,847 4,010,626 RGD:7240710
RGD:9068941
hypogonadotropic hypogonadism 7 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 JBrowse link NW_004936644 722,849 839,723 RGD:9068941
G Axl AXL receptor tyrosine kinase JBrowse link NW_004936661 3,658,140 3,687,290 RGD:9068941
G Bbip1 BBSome interacting protein 1 JBrowse link NW_004936486 1,707,367 1,723,481 RGD:9068941
G Ccdc141 coiled-coil domain containing 141 JBrowse link NW_004936509 8,020,525 8,204,992 RGD:9068941
G Dusp6 dual specificity phosphatase 6 JBrowse link NW_004936507 6,309,114 6,314,512 RGD:9068941
G Fezf1 FEZ family zinc finger 1 JBrowse link NW_004936605 3,027,138 3,030,442 RGD:9068941
G Fgf17 fibroblast growth factor 17 JBrowse link NW_004936555 5,869,156 5,877,674 RGD:9068941
G Fgfr1 fibroblast growth factor receptor 1 JBrowse link NW_004936710 1,760,365 1,815,269 RGD:9068941
G Flrt3 fibronectin leucine rich transmembrane protein 3 JBrowse link NW_004936485 5,532,554 5,547,430 RGD:9068941
G Gnrh1 gonadotropin releasing hormone 1 JBrowse link NW_004936757 1,282,185 1,285,804 RGD:9068941
G Gnrhr gonadotropin releasing hormone receptor JBrowse link NW_004936582 749,016 765,189 RGD:7240710
RGD:9068941
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 JBrowse link NW_004936469 43,039,494 43,086,041 RGD:9068941
G Il17rd interleukin 17 receptor D JBrowse link NW_004936473 7,447,292 7,507,819 RGD:9068941
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor JBrowse link NW_004936669 606,392 614,748 RGD:9068941
G Pnpla6 patatin like phospholipase domain containing 6 JBrowse link NW_004936588 4,608,856 4,632,198 RGD:9068941
G Polr3b RNA polymerase III subunit B JBrowse link NW_004936492 8,415,997 8,544,149 RGD:9068941
G Prokr2 prokineticin receptor 2 JBrowse link NW_004936485 13,620,000 13,632,134 RGD:9068941
G Rnf216 ring finger protein 216 JBrowse link NW_004936765 452,755 592,358 RGD:9068941
G Sema3e semaphorin 3E JBrowse link NW_004936734 1,850,709 2,085,541 RGD:9068941
G Spry4 sprouty RTK signaling antagonist 4 JBrowse link NW_004936504 11,907,667 11,922,487 RGD:9068941
G Sra1 steroid receptor RNA activator 1 JBrowse link NW_004936531 9,518,719 9,525,195 RGD:9068941
G Tac3 tachykinin precursor 3 JBrowse link NW_004936646 1,226,797 1,233,513 RGD:9068941
G Wdr11 WD repeat domain 11 JBrowse link NW_004936486 10,007,728 10,061,640 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 NW_004936588 384,195 387,625 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 NW_004936669 606,392 614,748 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 NW_004936710 1,760,365 1,815,269 RGD:9068941
Kallmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 JBrowse link NW_004936644 722,849 839,723 RGD:9068941
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link NW_004936496 12,381,225 12,505,121 RGD:9068941
G Fgf8 fibroblast growth factor 8 JBrowse link NW_004936600 4,004,847 4,010,626 RGD:9068941
G Fgfr1 fibroblast growth factor receptor 1 JBrowse link NW_004936710 1,760,365 1,815,269 RGD:9068941
G Prok2 prokineticin 2 JBrowse link NW_004936603 3,299,736 3,419,539 RGD:9068941
G Prokr2 prokineticin receptor 2 JBrowse link NW_004936485 13,620,000 13,632,134 RGD:9068941
G Sox10 SRY-box transcription factor 10 JBrowse link NW_004936492 3,173,770 3,183,423 RGD:9068941
G Sra1 steroid receptor RNA activator 1 JBrowse link NW_004936531 9,518,719 9,525,195 RGD:9068941
G Wdr11 WD repeat domain 11 JBrowse link NW_004936486 10,007,728 10,061,640 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 NW_004936496 12,381,225 12,505,121 RGD:9068941
Kallmann Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf8 fibroblast growth factor 8 JBrowse link NW_004936600 4,004,847 4,010,626 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11418
    disease of anatomical entity 11088
      endocrine system disease 3825
        gonadal disease 799
          hypogonadism 101
            hypogonadotropic hypogonadism 33
              Gordon Holmes syndrome 1
              Kallmann syndrome + 9
              hypogonadotropic hypogonadism 10 with or without anosmia 1
              hypogonadotropic hypogonadism 11 with or without anosmia 0
              hypogonadotropic hypogonadism 12 with or without anosmia 3
              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 0
              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 0
              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 23
              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.