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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
Y
5,163,638
3,807,032
5,363,835
4,014,112
RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 15 48,053,895 48,106,634 RGD:9068941
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 JBrowse link 15 59,066,448 59,108,780 RGD:9068941
G NR5A1 nuclear receptor subfamily 5 group A member 1 JBrowse link 1 265,284,491 265,311,547 RGD:9068941
G PROKR2 prokineticin receptor 2 JBrowse link 17 14,243,738 14,257,346 RGD:9068941
G RNF216 ring finger protein 216 JBrowse link 3 4,158,447 4,329,458 RGD:9068941
G TAC3 tachykinin precursor 3 JBrowse link 5 22,324,927 22,336,464 RGD:9068941
G TACR3 tachykinin receptor 3 JBrowse link 8 117,662,122 117,718,317 RGD:9068941
Gordon Holmes syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNF216 ring finger protein 216 JBrowse link 3 4,158,447 4,329,458 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
Y
5,163,638
3,807,032
5,363,835
4,014,112
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 5 22,324,927 22,336,464 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 8 117,662,122 117,718,317 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 14 9,442,971 9,447,521 RGD:7240710
RGD:9068941
G KCTD9 potassium channel tetramerization domain containing 9 JBrowse link 14 9,453,086 9,517,686 RGD:9068941
G TACR3 tachykinin receptor 3 JBrowse link 8 117,662,122 117,718,317 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 9 64,834,822 64,841,071 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 14 130,618,924 130,674,536 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 15 59,066,448 59,108,780 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 9 95,934,937 96,387,950 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 2 143,877,334 143,891,280 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 13 38,935,631 39,006,721 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 5 93,303,058 93,307,510 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 15 48,053,895 48,106,634 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 14 6,310,840 6,315,465 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 17 22,940,491 22,955,277 RGD:7240710
RGD:9068941
G MACROD2 mono-ADP ribosylhydrolase 2 JBrowse link 17 22,635,105 24,686,846 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 18 24,881,850 24,884,790 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 6 54,263,574 54,269,286 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 2 30,395,769 30,399,282 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 17 14,243,738 14,257,346 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 13 53,169,040 53,184,695 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 4 72,572,455 72,754,443 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 14 112,808,215 112,814,225 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 X
Y
5,163,638
3,807,032
5,363,835
4,014,112
RGD:9068941
G AXL AXL receptor tyrosine kinase JBrowse link 6 49,245,802 49,277,917 RGD:9068941
G BBIP1 BBSome interacting protein 1 JBrowse link 14 121,327,357 121,348,671 RGD:9068941
G CCDC141 coiled-coil domain containing 141 JBrowse link 15 84,534,725 84,745,296 RGD:9068941
G DUSP6 dual specificity phosphatase 6 JBrowse link 5 93,303,058 93,307,510 RGD:9068941
G FEZF1 FEZ family zinc finger 1 JBrowse link 18 24,881,850 24,884,790 RGD:9068941
G FGF17 fibroblast growth factor 17 JBrowse link 14 6,310,840 6,315,465 RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 15 48,053,895 48,106,634 RGD:9068941
G FLRT3 fibronectin leucine rich transmembrane protein 3 JBrowse link 17 22,940,491 22,955,277 RGD:9068941
G GNRH1 gonadotropin releasing hormone 1 JBrowse link 14 9,442,971 9,447,521 RGD:9068941
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 JBrowse link 15 59,066,448 59,108,780 RGD:9068941
G IL17RD interleukin 17 receptor D JBrowse link 13 38,935,631 39,006,721 RGD:9068941
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor RGD:9068941
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 2 71,577,165 71,602,756 RGD:9068941
G PROKR2 prokineticin receptor 2 JBrowse link 17 14,243,738 14,257,346 RGD:9068941
G RNF216 ring finger protein 216 JBrowse link 3 4,158,447 4,329,458 RGD:9068941
G SEMA3E semaphorin 3E JBrowse link 9 96,682,178 96,941,074 RGD:9068941
G SPRY4 sprouty RTK signaling antagonist 4 JBrowse link 2 143,877,334 143,891,280 RGD:9068941
G SRA1 steroid receptor RNA activator 1 JBrowse link 2 142,307,009 142,314,613 RGD:9068941
G TAC3 tachykinin precursor 3 JBrowse link 5 22,324,927 22,336,464 RGD:9068941
G TACR3 tachykinin receptor 3 JBrowse link 8 117,662,122 117,718,317 RGD:9068941
G WDR11 WD repeat domain 11 JBrowse link 14 130,618,924 130,674,536 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 2 77,472,361 77,479,204 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 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 15 48,053,895 48,106,634 RGD:9068941
Kallmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANOS1 anosmin 1 JBrowse link X
Y
5,163,638
3,807,032
5,363,835
4,014,112
RGD:9068941
G CHD7 chromodomain helicase DNA binding protein 7 JBrowse link 4 72,572,455 72,754,443 RGD:9068941
G FGF8 fibroblast growth factor 8 JBrowse link 14 112,808,215 112,814,225 RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 15 48,053,895 48,106,634 RGD:9068941
G PROK2 prokineticin 2 JBrowse link 13 53,169,040 53,184,695 RGD:9068941
G PROKR2 prokineticin receptor 2 JBrowse link 17 14,243,738 14,257,346 RGD:9068941
G SOX10 SRY-box transcription factor 10 JBrowse link 5 9,890,439 9,901,746 RGD:9068941
G SRA1 steroid receptor RNA activator 1 JBrowse link 2 142,307,009 142,314,613 RGD:9068941
G WDR11 WD repeat domain 11 JBrowse link 14 130,618,924 130,674,536 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 4 72,572,455 72,754,443 RGD:9068941
Kallmann Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGF8 fibroblast growth factor 8 JBrowse link 14 112,808,215 112,814,225 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12020
    disease of anatomical entity 11677
      endocrine system disease 4065
        gonadal disease 815
          hypogonadism 104
            hypogonadotropic hypogonadism 34
              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 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 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 22
              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.