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ONTOLOGY REPORT - ANNOTATIONS


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 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      endocrine system disease 4789
        gonadal disease 843
          hypogonadism 107
            hypogonadotropic hypogonadism 35
              hypogonadotropic hypogonadism 7 with or without anosmia 23
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal recessive disease 1974
                hypogonadotropic hypogonadism 7 with or without anosmia 23
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.