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Term:hypogonadotropic hypogonadism 7 with or without anosmia
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Accession:DOID:0090078 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. (DO)
Synonyms:exact_synonym: HH7;   HYPOGONADISM, ISOLATED HYPOGONADOTROPIC;   IHH;   Idiopathic Hypogonadotropic Hypogonadism
 primary_id: MESH:C562785
 alt_id: OMIM:146110;   RDO:0012355
For additional species annotation, visit the Alliance of Genome Resources.


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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 Ccdc141 coiled-coil domain containing 141 JBrowse link 3 63,865,240 64,024,208 RGD:11554173
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:11567244
RGD:11567246
RGD:11567265
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 Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
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
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 Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 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 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

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Path 1
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          hypogonadotropic hypogonadism 7 with or without anosmia 25
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      endocrine system disease 4646
        gonadal disease 806
          hypogonadism 115
            hypogonadotropic hypogonadism 37
              hypogonadotropic hypogonadism 7 with or without anosmia 25
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