ONTOLOGY REPORT - ANNOTATIONS


Term:hypogonadism
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Accession:DOID:1924 term browser browse the term
Definition:Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
Synonyms:exact_synonym: hypergonadotropic hypogonadism;   isolated hypogonadotropic hypogonadism
 narrow_synonym: Nonsyndromic hypergonadotropic hypogonadism
 primary_id: MESH:D007006
 alt_id: OMIM:241100;   RDO:0000554
For additional species annotation, visit the Alliance of Genome Resources.


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hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 RGD:8554872
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:13592920
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 JBrowse link 8 62,798,317 62,809,848 RGD:4833436
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 RGD:11554173
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 JBrowse link 8 58,744,849 58,772,408 RGD:11554173
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:4833436
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
G Fshb follicle stimulating hormone subunit beta JBrowse link 3 98,088,321 98,092,131 RGD:11554173
G Gnrh1 gonadotropin releasing hormone 1 JBrowse link 15 44,441,856 44,446,064 RGD:9685135
RGD:11554173
G Gnrhr gonadotropin releasing hormone receptor JBrowse link 14 23,480,462 23,498,450 RGD:11554173
RGD:8554872
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 JBrowse link 9 42,620,006 42,659,184 RGD:8554872
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 RGD:4833436
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:2317160
G Kiss1r KISS1 receptor JBrowse link 7 12,606,210 12,609,868 RGD:1599279
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:10053622
RGD:11554173
G Lepr leptin receptor JBrowse link 5 120,503,475 120,682,281 RGD:11554173
G Lhb luteinizing hormone beta polypeptide JBrowse link 1 101,409,992 101,413,725 RGD:11554173
G Lhcgr luteinizing hormone/choriogonadotropin receptor JBrowse link 6 12,493,182 12,554,482 RGD:8554872
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 JBrowse link X 54,734,385 54,738,513 RGD:11554173
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
G Pcsk1 proprotein convertase subtilisin/kexin type 1 JBrowse link 2 91,450,162 91,497,091 RGD:1357926
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 100,538,066 100,554,105 RGD:11554173
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:8554872
G Prkg1 protein kinase cGMP-dependent 1 JBrowse link 1 248,982,039 250,300,952 RGD:7775065
G Prl prolactin JBrowse link 17 39,814,236 39,824,299 RGD:11554173
G Prokr2 prokineticin receptor 2 JBrowse link 3 125,006,180 125,021,020 RGD:8554872
G Prop1 PROP paired-like homeobox 1 JBrowse link 10 36,449,920 36,452,381 RGD:1601504
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 Slc29a3 solute carrier family 29 member 3 JBrowse link 20 30,289,527 30,327,343 RGD:11554173
G Snrpe small nuclear ribonucleoprotein polypeptide E JBrowse link 13 50,252,707 50,258,951 RGD:10768832
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 JBrowse link 3 3,290,766 3,295,226 RGD:8554872
G Star steroidogenic acute regulatory protein JBrowse link 16 71,036,204 71,040,847 RGD:4833436
G Tac3 tachykinin 3 JBrowse link 7 71,023,976 71,030,582 RGD:8554872
RGD:11554173
G Tacr3 tachykinin receptor 3 JBrowse link 2 240,021,152 240,118,971 RGD:8554872
RGD:11554173
46 XX gonadal dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancl FA complementation group L JBrowse link 14 110,675,306 110,740,880 RGD:13592920
G Fshr follicle stimulating hormone receptor JBrowse link 6 12,796,383 12,997,817 RGD:1601232
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:11554173
46 XY gonadal dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akr1c1 aldo-keto reductase family 1, member C1 JBrowse link 17 69,441,253 69,460,334 RGD:13592920
G Akr1c2 aldo-keto reductase family 1, member C2 JBrowse link 17 69,388,337 69,435,160 RGD:13592920
G Cbx2 chromobox 2 JBrowse link 10 108,132,105 108,140,935 RGD:13592920
G Dhh desert hedgehog signaling molecule JBrowse link 7 140,575,288 140,580,783 RGD:1601053
RGD:13592920
RGD:8554872
G Map3k1 mitogen-activated protein kinase kinase kinase 1 JBrowse link 2 43,329,516 43,393,203 RGD:13592920
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 JBrowse link X 54,734,385 54,738,513 RGD:13592920
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:11554173
G Sry sex determining region Y JBrowse link Y 327,176 327,685 RGD:1599179
RGD:11554173
RGD:1598780
G Zfpm2 zinc finger protein, multitype 2 JBrowse link 7 79,471,277 79,964,405 RGD:13592920
46, XY Sex Reversal 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbx2 chromobox 2 JBrowse link 10 108,132,105 108,140,935 RGD:7240710
RGD:8554872
46,XX Sex Reversal 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sry sex determining region Y JBrowse link Y 327,176 327,685 RGD:7240710
RGD:8554872
46,XX Sex Reversal 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox9 SRY box 9 JBrowse link 10 101,288,528 101,294,030 RGD:8554872
RGD:7240710
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhh desert hedgehog signaling molecule JBrowse link 7 140,575,288 140,580,783 RGD:7240710
RGD:8554872
46,Xy Gonadal Dysgenesis, Complete, Sry-Related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sry sex determining region Y JBrowse link Y 327,176 327,685 RGD:8554872
46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhh desert hedgehog signaling molecule JBrowse link 7 140,575,288 140,580,783 RGD:7240710
RGD:8554872
46,XY Sex Reversal 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sry sex determining region Y JBrowse link Y 327,176 327,685 RGD:7240710
RGD:8554872
46,XY SEX REVERSAL 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox9 SRY box 9 JBrowse link 10 101,288,528 101,294,030 RGD:8554872
RGD:7240710
46,XY Sex Reversal 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmrt1 doublesex and mab-3 related transcription factor 1 JBrowse link 1 243,477,403 243,582,629 RGD:8554872
46,XY Sex Reversal 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map3k1 mitogen-activated protein kinase kinase kinase 1 JBrowse link 2 43,329,516 43,393,203 RGD:7240710
RGD:8554872
46,XY Sex Reversal 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfpm2 zinc finger protein, multitype 2 JBrowse link 7 79,471,277 79,964,405 RGD:8554872
RGD:7240710
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phf6 PHD finger protein 6 JBrowse link X 158,698,353 158,739,855 RGD:7240710
RGD:8554872
Cerebellar Ataxia and Hypogonadotropic Hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf216 ring finger protein 216 JBrowse link 12 13,508,429 13,631,689 RGD:7240710
RGD:8554872
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:7240710
RGD:8554872
congenital adrenal insufficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 JBrowse link 8 62,798,317 62,809,848 RGD:7240710
RGD:8554872
D-bifunctional protein deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:1599968
RGD:10411884
RGD:7240710
De Sanctis-Cacchione Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7240710
RGD:8554872
RGD:11554173
Dosage-Sensitive Sex Reversal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 JBrowse link X 54,734,385 54,738,513 RGD:7240710
RGD:8554872
eunuchism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lhb luteinizing hormone beta polypeptide JBrowse link 1 101,409,992 101,413,725 RGD:8554872
gonadal dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbx2 chromobox 2 JBrowse link 10 108,132,105 108,140,935 RGD:9586730
G Fmr1 fragile X mental retardation 1 JBrowse link X 154,684,924 154,722,369 RGD:11554173
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:12904919
G Tspyl1 TSPY-like 1 JBrowse link 20 41,083,317 41,085,876 RGD:1599672
Gonadal Dysgenesis, XX Type, with Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bnc2 basonuclin 2 JBrowse link 5 102,407,508 102,807,389 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 RGD:8554872
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:7240710
RGD:8554872
RGD:11554173
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 RGD:8554872
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
G Gnrhr gonadotropin releasing hormone receptor JBrowse link 14 23,480,462 23,498,450 RGD:8554872
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 JBrowse link 9 42,620,006 42,659,184 RGD:8554872
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:13592920
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 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 Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
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
hypogonadotropic hypogonadism 1 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 10 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tac3 tachykinin 3 JBrowse link 7 71,023,976 71,030,582 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 11 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tacr3 tachykinin receptor 3 JBrowse link 2 240,021,152 240,118,971 RGD:7240710
RGD:8554872
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 15 44,441,856 44,446,064 RGD:9685133
RGD:8554872
RGD:7240710
RGD:9685137
RGD:9685134
G Gnrhr gonadotropin releasing hormone receptor JBrowse link 14 23,480,462 23,498,450 RGD:8554872
G Kctd9 potassium channel tetramerization domain containing 9 JBrowse link 15 44,411,591 44,439,645 RGD:8554872
G Tacr3 tachykinin receptor 3 JBrowse link 2 240,021,152 240,118,971 RGD:8554872
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 13 50,529,506 50,537,603 RGD:7240710
RGD:8554872
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 1 202,770,810 202,816,336 RGD:7240710
RGD:8554872
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 9 42,620,006 42,659,184 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 16 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sema3a semaphorin 3A JBrowse link 4 18,170,375 18,545,190 RGD:8554872
RGD:7240710
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 18 32,593,370 32,609,890 RGD:7240710
RGD:8554872
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 16 2,670,471 2,737,271 RGD:7240710
RGD:8554872
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 7 41,475,163 41,479,393 RGD:7240710
RGD:8554872
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 16 71,265,390 71,319,046 RGD:7240710
RGD:8554872
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 15 52,326,758 52,337,360 RGD:7240710
RGD:8554872
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 3 134,684,446 134,696,586 RGD:7240710
RGD:8554872
G Macrod2 mono-ADP ribosylhydrolase 2 JBrowse link 3 135,729,839 136,422,082 RGD:8554872
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 4 50,309,281 50,312,608 RGD:8554872
RGD:7240710
hypogonadotropic hypogonadism 23 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnrhr gonadotropin releasing hormone receptor JBrowse link 14 23,480,462 23,498,450 RGD:8554872
G Lhb luteinizing hormone beta polypeptide JBrowse link 1 101,409,992 101,413,725 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 24 without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fshb follicle stimulating hormone subunit beta JBrowse link 3 98,088,321 98,092,131 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 3 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prokr2 prokineticin receptor 2 JBrowse link 3 125,006,180 125,021,020 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 4 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prok2 prokineticin 2 JBrowse link 4 132,157,556 132,171,244 RGD:8554872
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 5 21,769,087 21,952,036 RGD:7240710
RGD:8554872
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 1 265,492,949 265,498,965 RGD:13592920
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:11567265
RGD:11567246
RGD:11567244
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
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 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
hypogonadotropic hypogonadism 8 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kiss1r KISS1 receptor JBrowse link 7 12,606,210 12,609,868 RGD:7240710
RGD:8554872
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 3 2,262,173 2,270,996 RGD:7240710
RGD:8554872
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 16 71,265,390 71,319,046 RGD:11567239
RGD:11567241
RGD:11567240
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Polr3a RNA polymerase III subunit A JBrowse link 16 717,821 756,002 RGD:7240710
RGD:8554872
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:8554872
RGD:11554173
G Rps24 ribosomal protein S24 JBrowse link 16 757,390 762,091 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Isolated Mineralocorticoid Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 JBrowse link X 54,734,385 54,738,513 RGD:8554872
Kallmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 RGD:11554173
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872
RGD:11554173
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:7240710
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
RGD:11554173
G Prok2 prokineticin 2 JBrowse link 4 132,157,556 132,171,244 RGD:11554173
G Prokr2 prokineticin receptor 2 JBrowse link 3 125,006,180 125,021,020 RGD:8554872
RGD:11554173
G Sox10 SRY box 10 JBrowse link 7 120,393,238 120,403,523 RGD:12832748
RGD:13592920
G Wdr11 WD repeat domain 11 JBrowse link 1 202,770,810 202,816,336 RGD:13592920
Kallmann Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872
Kallmann Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:8554872
Klinefelter's syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 RGD:8554872
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
G Gnrhr gonadotropin releasing hormone receptor JBrowse link 14 23,480,462 23,498,450 RGD:8554872
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 JBrowse link 9 42,620,006 42,659,184 RGD:8554872
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 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 Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
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
Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akr1c1 aldo-keto reductase family 1, member C1 JBrowse link 17 69,441,253 69,460,334 RGD:7240710
RGD:8554872
G Akr1c2 aldo-keto reductase family 1, member C2 JBrowse link 17 69,388,337 69,435,160 RGD:7240710
RGD:8554872
Malouf Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:7240710
RGD:8554872
Martsolf syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:7240710
RGD:8554872
Meacham Winn Culler Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:7240710
RGD:8554872
MEHMO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma JBrowse link X 63,268,106 63,291,125 RGD:8554872
RGD:7240710
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:7240710
RGD:8554872
RGD:13442490
RGD:11040909
RGD:1599406
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcap31 B-cell receptor-associated protein 31 JBrowse link X 157,094,365 157,126,397 RGD:8554872
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:8554872
Ovarian Dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp15 bone morphogenetic protein 15 JBrowse link X 17,016,831 17,021,894 RGD:8554872
G Fshr follicle stimulating hormone receptor JBrowse link 6 12,796,383 12,997,817 RGD:8554872
ovarian dysgenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fshr follicle stimulating hormone receptor JBrowse link 6 12,796,383 12,997,817 RGD:7240710
RGD:8554872
ovarian dysgenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp15 bone morphogenetic protein 15 JBrowse link X 17,016,831 17,021,894 RGD:7240710
RGD:8554872
ovarian dysgenesis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nrxn1 neurexin 1 JBrowse link 6 13,886,757 15,191,660 RGD:8554872
G Psmc3ip PSMC3 interacting protein JBrowse link 10 89,002,109 89,006,075 RGD:7240710
RGD:8554872
ovarian dysgenesis 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor JBrowse link 20 34,818,093 34,930,157 RGD:7240710
RGD:8554872
ovarian dysgenesis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 JBrowse link 3 3,290,766 3,295,226 RGD:8554872
RGD:7240710
ovarian dysgenesis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup107 nucleoporin 107 JBrowse link 7 60,781,724 60,825,225 RGD:8554872
RGD:7240710
ovarian dysgenesis 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
RGD:7240710
ovarian dysgenesis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:8554872
RGD:7240710
Perrault syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit JBrowse link 9 10,048,715 10,056,068 RGD:13592920
G Hars2 histidyl-tRNA synthetase 2, mitochondrial JBrowse link 18 29,629,203 29,638,460 RGD:13592920
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:8554872
RGD:13592920
G Lars2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 8 132,441,277 132,537,176 RGD:8554872
RGD:13592920
Perrault Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hars2 histidyl-tRNA synthetase 2, mitochondrial JBrowse link 18 29,629,203 29,638,460 RGD:7240710
RGD:8554872
Perrault Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit JBrowse link 9 10,048,715 10,056,068 RGD:7240710
RGD:8554872
Perrault Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lars2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 8 132,441,277 132,537,176 RGD:7240710
RGD:8554872
Perrault syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:7240710
RGD:8554872
Perrault syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eral1 Era-like 12S mitochondrial rRNA chaperone 1 JBrowse link 10 65,272,849 65,291,070 RGD:8554872
RGD:7240710
Sexual Infantilism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 JBrowse link 8 58,744,849 58,772,408 RGD:11554173
syndromic X-linked intellectual disability Cabezas type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 RGD:7240710
RGD:8554872
Turner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:11554173
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:11554173
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12743588
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743588
RGD:12743598
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:11554173
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13432073
Warburg micro syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab18 RAB18, member RAS oncogene family JBrowse link 17 59,844,781 59,876,170 RGD:8554872
RGD:11554173
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
RGD:11554173
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:8554872
RGD:11554173
G Tbc1d20 TBC1 domain family, member 20 JBrowse link 3 147,772,006 147,790,946 RGD:11554173
G Zranb3 zinc finger RANBP2-type containing 3 JBrowse link 13 44,661,375 44,812,430 RGD:8554872
Warburg micro syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
RGD:7240710
G Zranb3 zinc finger RANBP2-type containing 3 JBrowse link 13 44,661,375 44,812,430 RGD:8554872
Warburg micro syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:7240710
RGD:8554872
Warburg micro syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab18 RAB18, member RAS oncogene family JBrowse link 17 59,844,781 59,876,170 RGD:7240710
RGD:8554872
Warburg micro syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d20 TBC1 domain family, member 20 JBrowse link 3 147,772,006 147,790,946 RGD:7240710
RGD:8554872
Woodhouse Sakati Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcaf17 DDB1 and CUL4 associated factor 17 JBrowse link 3 57,646,799 57,678,802 RGD:7240710
RGD:8554872
G Mettl8 methyltransferase like 8 JBrowse link 3 57,257,394 57,642,096 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      endocrine system disease 4704
        gonadal disease 848
          hypogonadism 118
            Alopecia, Hypogonadism, Extrapyramidal Disorder 0
            Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 0
            Bassoe Syndrome 0
            Biemond Syndrome II 0
            Borjeson-Forssman-Lehmann syndrome 1
            Cantalamessa Baldini Ambrosi Syndrome 0
            Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
            Cerebellar Ataxia and Hypergonadotropic Hypogonadism 0
            Chang Davidson Carlson Syndrome 0
            Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 1
            Chudley-Rozdilsky Syndrome 0
            De Sanctis-Cacchione Syndrome 1
            Deafness-Hypogonadism Syndrome 0
            Encephalopathy, Spastic Tetraparesis, and Hypogonadism 0
            Hypergonadotropic Hypogonadism And Partial Alopecia 0
            Hypogonadism and Testicular Atrophy 0
            Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 0
            Ichthyosis and Male Hypogonadism 0
            Isolated Mineralocorticoid Deficiency 1
            Johnson Neuroectodermal Syndrome 0
            Klinefelter's syndrome 11
            Lubinsky Syndrome 0
            MEHMO syndrome 1
            Male Hypogonadism with Mental Retardation and Skeletal Anomalies 0
            Malouf Syndrome 1
            Martsolf syndrome 2
            Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 1
            Moebius Axonal Neuropathy Hypogonadism 0
            Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 2
            Muscular Dystrophy, Congenital, Infantile with Cataract and Hypogonadism 0
            Myopathy, Cataract, Hypogonadism Syndrome 0
            Progressive External Ophthalmoplegia with Hypogonadism 0
            Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 0
            Richards-Rundle Syndrome 0
            Rud Syndrome 0
            Scholte Syndrome 0
            Seemanova Lesny Syndrome 0
            Sexual Infantilism 1
            Slti Salem Syndrome 0
            Vasquez Hurst Sotos Syndrome 0
            Warburg micro syndrome + 5
            Weinstein Kliman Scully Syndrome 0
            Woodhouse Sakati Syndrome 2
            Young Hughes Syndrome 0
            eunuchism + 5
            gonadal dysgenesis + 47
            hypogonadotropic hypogonadism + 37
            hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 8
            syndromic X-linked intellectual disability Cabezas type 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.