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ONTOLOGY REPORT - ANNOTATIONS


Term:Urogenital Abnormalities
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Accession:DOID:9001611 term browser browse the term
Definition:Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.
Synonyms:exact_synonym: Genitourinary Abnormalities;   Genitourinary Abnormality;   Urogenital Abnormality
 primary_id: MESH:D014564;   RDO:0000857
For additional species annotation, visit the Alliance of Genome Resources.


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Urogenital Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agtr2 angiotensin II receptor, type 2 JBrowse link X 119,389,480 119,393,845 RGD:6903850
RGD:6903853
G Fgd1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 20,100,942 20,143,871 RGD:11554173
G Hoxa13 homeo box A13 RGD:1599526
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:1600214
G Samd9 sterile alpha motif domain containing 9 JBrowse link 4 28,304,967 28,324,637 RGD:11554173
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:11554173
G Wnt4 Wnt family member 4 JBrowse link 5 155,649,238 155,668,065 RGD:1599857
17,20-Lyase Deficiency, Isolated term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 RGD:8554872
17-Hydroxysteroid Dehydrogenase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 JBrowse link 17 1,579,319 1,610,745 RGD:7240710
RGD:8554872
RGD:11554173
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:7240710
RGD:8554872
RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 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, XX Disorders of Sex Development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 JBrowse link 18 31,728,373 32,704,022 RGD:11554173
46, XY Disorders of Sex Development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amhr2 anti-Mullerian hormone receptor type 2 JBrowse link 7 144,052,202 144,060,678 RGD:8554872
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 JBrowse link 8 62,798,317 62,809,848 RGD:11554173
G Lhcgr luteinizing hormone/choriogonadotropin receptor JBrowse link 6 12,493,182 12,554,482 RGD:11554173
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:7240710
RGD:8554872
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 transcription factor 9 JBrowse link 10 101,288,528 101,294,030 RGD:8554872
RGD:7240710
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 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
G Wnt4 Wnt family member 4 JBrowse link 5 155,649,238 155,668,065 RGD:7240710
RGD:8554872
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 transcription factor 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
46,Xy True Hermaphroditism, 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
Adrenal Hyperplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 JBrowse link 2 200,712,895 200,722,429 RGD:7240710
RGD:8554872
RGD:11554173
ALAZAMI-YUAN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 12 19,320,269 19,328,706 RGD:8554872
RGD:7240710
Allanson Pantzar McLeod Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11554173
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11554173
G Agtr1a angiotensin II receptor, type 1a JBrowse link 17 35,907,102 35,958,136 RGD:11554173
G Ren renin JBrowse link 13 50,502,724 50,513,953 RGD:11554173
Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:1600924
RGD:8554872
RGD:11554173
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:8554872
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:1600687
RGD:8554872
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7175090
G Mmp12 matrix metallopeptidase 12 JBrowse link 8 5,594,717 5,616,494 RGD:7241212
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:7241252
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:11554173
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365078
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:7240710
androgen insensitivity syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:7240710
RGD:8554872
RGD:11576240
RGD:11576235
RGD:11576233
RGD:11576232
RGD:11571628
RGD:11571627
RGD:11571622
RGD:11554173
G Fkbp4 FKBP prolyl isomerase 4 JBrowse link 4 161,748,993 161,757,447 RGD:13592920
G Kat7 lysine acetyltransferase 7 JBrowse link 10 83,095,067 83,128,342 RGD:9681005
Androgen Insensitivity Syndrome due to Coactivator Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:8554872
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
G Tmem120a transmembrane protein 120A JBrowse link 12 23,989,596 23,998,257 RGD:8554872
aromatase excess syndrome 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:7240710
RGD:8554872
RGD:11554173
autosomal dominant Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:7240710
RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:8554872
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:6902925
autosomal dominant Robinow syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:13592920
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:13592920
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Wnt5a Wnt family member 5A JBrowse link 16 4,469,451 4,490,271 RGD:7240710
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:8554872
RGD:7240710
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872
autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
RGD:7240710
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872
autosomal recessive Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr1 C-C motif chemokine receptor 1 JBrowse link 8 132,996,646 133,002,201 RGD:5688157
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:7240710
RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:7240710
RGD:8554872
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:13592920
autosomal recessive Robinow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:13592920
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11537348
RGD:11537347
RGD:11535948
Autosomal Recessive Robinow Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nxn nucleoredoxin JBrowse link 10 64,411,710 64,550,147 RGD:7240710
RGD:8554872
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln1 fibulin 1 JBrowse link 7 126,096,793 126,176,468 RGD:8554872
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thoc6 THO complex 6 JBrowse link 10 12,989,135 12,994,495 RGD:7240710
RGD:8554872
bladder exstrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd5 frizzled class receptor 5 JBrowse link 9 71,443,784 71,445,541 RGD:8554872
G Isl1 ISL LIM homeobox 1 JBrowse link 2 48,488,911 48,501,217 RGD:8554872
G Lrp10 LDL receptor related protein 10 JBrowse link 15 33,107,706 33,114,831 RGD:8554872
G Lztr1 leucine-zipper-like transcription regulator 1 JBrowse link 11 87,381,638 87,397,849 RGD:8554872
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:13592920
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:8554872
G Wnt11 Wnt family member 11 JBrowse link 1 163,794,136 163,813,756 RGD:8554872
G Wnt3 Wnt family member 3 JBrowse link 10 91,830,709 91,874,907 RGD:8554872
G Wnt6 Wnt family member 6 JBrowse link 9 82,033,543 82,047,172 RGD:8554872
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:8554872
bladder exstrophy-epispadias-cloacal exstrophy complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd5 frizzled class receptor 5 JBrowse link 9 71,443,784 71,445,541 RGD:8554872
G Isl1 ISL LIM homeobox 1 JBrowse link 2 48,488,911 48,501,217 RGD:8554872
G Lrp10 LDL receptor related protein 10 JBrowse link 15 33,107,706 33,114,831 RGD:8554872
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11568641
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:8554872
G Wnt11 Wnt family member 11 JBrowse link 1 163,794,136 163,813,756 RGD:8554872
G Wnt3 Wnt family member 3 JBrowse link 10 91,830,709 91,874,907 RGD:8554872
G Wnt6 Wnt family member 6 JBrowse link 9 82,033,543 82,047,172 RGD:8554872
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:8554872
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Foxl2 forkhead box L2 JBrowse link 8 107,194,492 107,197,644 RGD:1598958
RGD:8554872
RGD:11554173
RGD:7240710
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
CAKUT2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13446406
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204792
G Tbx18 T-box transcription factor 18 JBrowse link 8 95,359,354 95,387,363 RGD:8554872
RGD:7240710
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204792
Campomelic Dysplasia with Autosomal Sex Reversal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox9 SRY-box transcription factor 9 JBrowse link 10 101,288,528 101,294,030 RGD:8554872
Cardiac-Urogenital Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myrf myelin regulatory factor JBrowse link 1 226,260,558 226,292,650 RGD:7240710
RGD:8554872
chondrodysplasia-pseudohermaphroditism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hhat hedgehog acyltransferase JBrowse link 13 111,235,325 111,489,075 RGD:13592920
congenital adrenal hyperplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Avpr1a arginine vasopressin receptor 1A JBrowse link 7 67,341,366 67,345,290 RGD:11554173
G Avpr2 arginine vasopressin receptor 2 JBrowse link X 156,889,006 156,892,707 RGD:11554173
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 JBrowse link 8 62,798,317 62,809,848 RGD:1599693
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 RGD:1600799
RGD:734864
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 JBrowse link 7 116,248,759 116,255,205 RGD:8554872
RGD:13592920
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 JBrowse link 7 116,155,928 116,161,781 RGD:13592920
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 RGD:4889141
RGD:8554872
RGD:11554173
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 JBrowse link 20 4,486,213 4,489,358 RGD:4889127
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 JBrowse link 2 200,712,895 200,722,429 RGD:8554872
RGD:11554173
G Htr4 5-hydroxytryptamine receptor 4 JBrowse link 18 57,637,013 57,820,317 RGD:11554173
G Pde8b phosphodiesterase 8B JBrowse link 2 24,718,548 24,955,533 RGD:11554173
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:4889128
RGD:11554173
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:11554173
G Star steroidogenic acute regulatory protein JBrowse link 16 71,036,204 71,040,847 RGD:1600070
RGD:13592920
RGD:8554872
RGD:4145592
G Tnxb tenascin XB RGD:8554872
Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 JBrowse link 7 116,248,759 116,255,205 RGD:7240710
RGD:8554872
Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbx2 chromobox 2 JBrowse link 10 108,132,105 108,140,935 RGD:8554872
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:12910854
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12910854
G Tnxb tenascin XB RGD:8554872
Congenital Adrenal Hyperplasia, Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 RGD:7240710
RGD:8554872
Congenital Adrenal Hypoplasia with Precocious Puberty 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
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
cortisone reductase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) JBrowse link 5 166,994,683 167,030,441 RGD:1625067
RGD:11554173
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 JBrowse link 13 111,946,626 111,996,536 RGD:1625067
RGD:11554173
cortisone reductase deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) JBrowse link 5 166,994,683 167,030,441 RGD:8554872
RGD:7240710
cortisone reductase deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 JBrowse link 13 111,946,626 111,996,536 RGD:7240710
RGD:8554872
cryptorchidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj RGD:13434925
G Anxa5 annexin A5 JBrowse link 2 123,162,477 123,194,730 RGD:10053693
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:1578685
RGD:11576231
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:11554173
RGD:8554872
G Bcl2l1 Bcl2-like 1 JBrowse link 3 148,259,594 148,314,191 RGD:11554173
G Btd biotinidase JBrowse link 16 7,758,192 7,791,301 RGD:8554872
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:11554173
RGD:13792609
G Cbl Cbl proto-oncogene JBrowse link 8 48,481,256 48,564,775 RGD:11554173
G Cftr CF transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:11567213
G Chrm3 cholinergic receptor, muscarinic 3 JBrowse link 17 63,990,599 64,463,222 RGD:11554173
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8553220
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:13792609
G Gfer growth factor, augmenter of liver regeneration JBrowse link 10 14,059,347 14,061,703 RGD:9685739
G Gpx4 glutathione peroxidase 4 JBrowse link 7 12,516,357 12,519,154 RGD:11554173
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743597
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 JBrowse link 2 200,712,895 200,722,429 RGD:11554173
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:10402945
G Htra2 HtrA serine peptidase 2 JBrowse link 4 113,883,671 113,886,833 RGD:10402928
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:12904727
G Insl3 insulin-like 3 JBrowse link 16 20,120,753 20,122,702 RGD:1600162
RGD:11554173
RGD:8554872
RGD:7240710
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
G Kdm5a lysine demethylase 5A JBrowse link 4 152,892,388 152,972,196 RGD:9588526
G Kiss1r KISS1 receptor JBrowse link 7 12,606,210 12,609,868 RGD:8554872
G Lsm1 LSM1 homolog, mRNA degradation associated JBrowse link 16 71,046,475 71,057,883 RGD:8554872
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:8554872
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:5132606
G Nfkbia NFKB inhibitor alpha JBrowse link 6 76,267,227 76,270,457 RGD:11567213
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:11567213
G Rela RELA proto-oncogene, NF-kB subunit JBrowse link 1 220,992,770 221,003,249 RGD:11567213
G Rxfp2 relaxin family peptide receptor 2 JBrowse link 12 6,016,884 6,078,411 RGD:1600187
RGD:13592920
RGD:8554872
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 9 119,675,750 119,818,620 RGD:8554872
G Sts steroid sulfatase JBrowse link X 45,420,418 45,428,748 RGD:1601402
G Syne2 spectrin repeat containing nuclear envelope protein 2 JBrowse link 6 98,884,269 99,153,551 RGD:12911229
G Szt2 SZT2 subunit of KICSTOR complex JBrowse link 5 137,192,120 137,238,384 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
Denys-Drash syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:1643343
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:1580624
RGD:8554872
RGD:7240710
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
Fraser syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:11554173
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:13592920
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:11554173
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:13592920
Fraser syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:1598960
RGD:8554872
RGD:7240710
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
Fraser syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:13464328
RGD:8554872
RGD:7240710
G Frem2fpl Fras1 related extracellular matrix protein 2;fpl mutant RGD:13464328
Fraser syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grip1 glutamate receptor interacting protein 1 JBrowse link 7 64,672,723 64,854,939 RGD:8554872
RGD:7240710
Frasier 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
Frontonasal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx4 ALX homeobox 4 JBrowse link 3 82,548,959 82,585,531 RGD:7240710
RGD:8554872
Fused Kidney term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:8554872
G Pacs1 phosphofurin acidic cluster sorting protein 1 JBrowse link 1 220,515,117 220,645,611 RGD:8554872
Genitopatellar Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:7240710
RGD:8554872
RGD:9588485
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 FMRP translational regulator 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, Dysmorphic Facies, Retinal Dystrophy and Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma JBrowse link 6 76,056,585 76,079,755 RGD:8554872
RGD:7240710
Gonadal Dysgenesis, XX Type, with Deafness 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:7240710
RGD:8554872
RGD:11554173
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:7240710
RGD:8554872
RGD:12880042
RGD:11554173
gynecomastia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif4a kinesin family member 4A JBrowse link X 70,461,700 70,561,084 RGD:8554872
G Prl prolactin JBrowse link 17 39,814,236 39,824,299 RGD:11554173
Gynecomastia, Familial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:8554872
hand-foot-genital syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa13 homeo box A13 RGD:1599526
RGD:8554872
RGD:11554173
RGD:7240710
hyperandrogenism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr2 bone morphogenetic protein receptor type 2 JBrowse link 9 66,568,074 66,683,019 RGD:11554173
G Il6st interleukin 6 signal transducer JBrowse link 2 44,279,199 44,319,427 RGD:1625428
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:8553031
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 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 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 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
hypospadias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:1578685
RGD:13592920
RGD:11576230
G Atf3 activating transcription factor 3 JBrowse link 13 109,817,892 109,849,632 RGD:11554173
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:11576312
RGD:11576313
G Dgkk diacylglycerol kinase kappa JBrowse link X 16,441,318 16,526,046 RGD:11554173
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:1626506
G Fgf10 fibroblast growth factor 10 JBrowse link 2 51,673,480 51,747,533 RGD:2314151
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:2314151
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:2314151
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12743602
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:11576313
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:11576313
G Hoxa13 homeo box A13 RGD:12743602
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743602
RGD:8554872
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 RGD:1625114
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 JBrowse link 2 200,712,895 200,722,429 RGD:11554173
G Srd5a2 steroid 5 alpha-reductase 2 JBrowse link 6 25,279,635 25,315,501 RGD:1600059
Hypospadias 1, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:7240710
RGD:8554872
IMAGe syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1c cyclin-dependent kinase inhibitor 1C JBrowse link 1 216,661,067 216,663,791 RGD:7240710
RGD:8554872
IMAGEI Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pole DNA polymerase epsilon, catalytic subunit JBrowse link 12 52,403,533 52,452,075 RGD:8554872
RGD:7240710
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:11554173
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 transcription factor 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 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 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
Leydig Cell Hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lhcgr luteinizing hormone/choriogonadotropin receptor JBrowse link 6 12,493,182 12,554,482 RGD:7240710
RGD:8554872
Lipoid Congenital Adrenal Hyperplasia 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:11554173
G Star steroidogenic acute regulatory protein JBrowse link 16 71,036,204 71,040,847 RGD:7240710
RGD:8554872
RGD:11554173
Lissencephaly, X-Linked, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
RGD:11565832
Lubs Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:8554872
Male Pseudohermaphroditism due to Defective LH Molecule term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lhb luteinizing hormone subunit beta JBrowse link 1 101,409,992 101,413,725 RGD:7240710
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
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
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctu2 cytosolic thiouridylase subunit 2 JBrowse link 19 55,300,531 55,305,543 RGD:8554872
RGD:7240710
Microphthalmia, Syndromic 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:7240710
RGD:8554872
Mullerian Aplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:8554872
G Wnt4 Wnt family member 4 JBrowse link 5 155,649,238 155,668,065 RGD:8554872
Mullerian Aplasia and Hyperandrogenism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt4 Wnt family member 4 JBrowse link 5 155,649,238 155,668,065 RGD:7240710
RGD:8554872
Multicystic Dysplastic Kidney term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13442498
G Fzd3 frizzled class receptor 3 JBrowse link 15 48,601,259 48,670,257 RGD:8554872
G Kif4a kinesin family member 4A JBrowse link X 70,461,700 70,561,084 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Pdgfa platelet derived growth factor subunit A JBrowse link 12 17,734,141 17,756,186 RGD:2298582
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
Opitz GBBB Syndrome, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:7240710
RGD:8554872
Opitz GBBB Syndrome, Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:8554872
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:7240710
RGD:8554872
Opitz-GBBB syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:13592920
RGD:8554872
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:13592920
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
Palmoplantar Hyperkeratosis and True Hermaphroditism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rspo1 R-spondin 1 JBrowse link 5 142,986,526 143,007,847 RGD:8554872
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rspo1 R-spondin 1 JBrowse link 5 142,986,526 143,007,847 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
persistent Mullerian duct syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amh anti-Mullerian hormone JBrowse link 7 11,775,155 11,777,503 RGD:7240710
RGD:8554872
G Amhr2 anti-Mullerian hormone receptor type 2 JBrowse link 7 144,052,202 144,060,678 RGD:7240710
RGD:8554872
popliteal pterygium syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irf6 interferon regulatory factor 6 JBrowse link 13 111,870,121 111,889,328 RGD:7240710
RGD:8554872
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:8554872
RGD:13592920
Popliteal Pterygium Syndrome, Lethal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ripk4 receptor-interacting serine-threonine kinase 4 JBrowse link 11 38,251,991 38,274,234 RGD:7240710
RGD:8554872
Preaxial Deficiency, Postaxial Polydactyly and Hypospadias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa13 homeo box A13 RGD:7240710
RGD:11554173
RGD:8554872
Progressive Renal Failure with Hypertension term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Calca calcitonin-related polypeptide alpha JBrowse link 1 184,184,018 184,188,922 RGD:7204486
Proud Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
pseudohermaphroditism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 JBrowse link 17 1,579,319 1,610,745 RGD:8554872
G Lhcgr luteinizing hormone/choriogonadotropin receptor JBrowse link 6 12,493,182 12,554,482 RGD:8554872
Pseudovaginal Perineoscrotal Hypospadias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srd5a2 steroid 5 alpha-reductase 2 JBrowse link 6 25,279,635 25,315,501 RGD:7240710
RGD:8554872
RGD:11554173
renal agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:11554173
G Itga8 integrin subunit alpha 8 JBrowse link 17 79,321,893 79,676,927 RGD:8554872
RGD:11554173
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:8554872
RGD:11554173
G Upk3a uroplakin 3A JBrowse link 7 125,920,357 125,925,430 RGD:8554872
Renal Hypodysplasia/Aplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga8 integrin subunit alpha 8 JBrowse link 17 79,321,893 79,676,927 RGD:7240710
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:8554872
Renal Hypodysplasia/Aplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf20 fibroblast growth factor 20 JBrowse link 16 55,152,748 55,159,352 RGD:7240710
RGD:8554872
Renal Hypodysplasia/Aplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Greb1l GREB1 like retinoic acid receptor coactivator JBrowse link 18 1,537,315 1,784,260 RGD:8554872
RGD:7240710
Renal Tubular Dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:7240710
RGD:11554173
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:7240710
G Agtr1a angiotensin II receptor, type 1a JBrowse link 17 35,907,102 35,958,136 RGD:7240710
G Ren renin JBrowse link 13 50,502,724 50,513,953 RGD:1598878
RGD:7240710
Robinow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:13592920
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:11554173
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
RGD:11554173
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Wnt5a Wnt family member 5A JBrowse link 16 4,469,451 4,490,271 RGD:8554872
RGD:11554173
Scalp Ear Nipple Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kctd1 potassium channel tetramerization domain containing 1 JBrowse link 18 6,374,778 6,474,990 RGD:7240710
RGD:8554872
sex development disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akr1c2 aldo-keto reductase family 1, member C2 JBrowse link 17 69,388,337 69,435,160 RGD:11554173
G Akr1c3 aldo-keto reductase family 1, member C3 JBrowse link 17 69,761,126 69,778,021 RGD:11554173
G Amh anti-Mullerian hormone JBrowse link 7 11,775,155 11,777,503 RGD:1601180
G Cbx2 chromobox 2 JBrowse link 10 108,132,105 108,140,935 RGD:9586734
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 JBrowse link 17 1,579,319 1,610,745 RGD:1599964
RGD:8554872
RGD:11554173
G Lhcgr luteinizing hormone/choriogonadotropin receptor JBrowse link 6 12,493,182 12,554,482 RGD:11554173
RGD:8554872
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
Skeletal Defects, Genital Hypoplasia, And Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zbtb16 zinc finger and BTB domain containing 16 JBrowse link 8 52,980,226 53,146,765 RGD:7240710
RGD:8554872
Structural Heart Defects and Renal Anomalies Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem260 transmembrane protein 260 JBrowse link 15 25,294,452 25,361,623 RGD:8554872
RGD:7240710
Testicular Anomalies with or without Congenital Heart Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:7240710
RGD:8554872
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnq cyclin Q JBrowse link 10 66,019,519 66,020,682 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
WAGR syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
RGD:11554173
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:1331525
RGD:8554872
RGD:11554173
Wilson-Turner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:8554872
RGD:13208817
G Las1l LAS1-like, ribosome biogenesis factor JBrowse link X 65,081,591 65,102,344 RGD:8554872
RGD:7240710
X-linked Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atg4a autophagy related 4A, cysteine peptidase JBrowse link X 112,328,907 112,403,157 RGD:8554872
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:7240710
RGD:8554872
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      Urogenital Diseases 3965
        Urogenital Abnormalities 231
          Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
          Allanson Pantzar McLeod Syndrome + 4
          Alport syndrome + 13
          Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 2
          Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 0
          B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 0
          Beaulieu-Boycott-Innes Syndrome 1
          Bifid or Double Ureter 0
          Calabro Syndrome 0
          Cardiac-Urogenital Syndrome 1
          Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 0
          DK Phocomelia Syndrome 0
          Duker Weiss Siber syndrome 0
          Epispadias + 10
          Fraser syndrome + 5
          Fused Kidney 2
          Genitopatellar Syndrome 2
          Genitourinary Tract Anomalies 0
          IMAGEI Syndrome 1
          IMAGe syndrome 1
          Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 0
          Lissencephaly, X-Linked, 2 1
          Microcephaly Seizures Genital Hypoplasia 0
          Microphthalmia, Syndromic 6 1
          Multicystic Dysplastic Kidney + 9
          Multiple Noduli Cutanei with Urinary Tract Abnormalities 0
          Myotubular Myopathy with Abnormal Genital Development 0
          Nephrosis Deafness Urinary Tract Digital Malformation 0
          Omphalocele Exstrophy Imperforate Anus 0
          Piepkorn Karp Hickok syndrome 0
          Proud Syndrome 1
          Pyelectasis 0
          Renal Dysplasia - Limb Defects Syndrome 0
          Renal, Genital, and Middle Ear Anomalies 0
          Retrocaval Ureter 0
          Robinow syndrome + 8
          Rosselli-Gulienetti Syndrome 0
          Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 0
          Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 0
          Structural Heart Defects and Renal Anomalies Syndrome 1
          Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 1
          Urinary Fistula + 0
          Uterine Anomalies 0
          blepharophimosis, ptosis, and epicanthus inversus syndrome 3
          cryptorchidism + 51
          hand-foot-genital syndrome 1
          hypospadias + 19
          popliteal pterygium syndrome + 2
          renal agenesis + 9
          sex development disorder + 100
Path 2
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        Congenital Abnormalities 3601
          Urogenital Abnormalities 231
            Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
            Allanson Pantzar McLeod Syndrome + 4
            Alport syndrome + 13
            Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 2
            Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 0
            B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 0
            Beaulieu-Boycott-Innes Syndrome 1
            Bifid or Double Ureter 0
            Calabro Syndrome 0
            Cardiac-Urogenital Syndrome 1
            Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 0
            DK Phocomelia Syndrome 0
            Duker Weiss Siber syndrome 0
            Epispadias + 10
            Fraser syndrome + 5
            Fused Kidney 2
            Genitopatellar Syndrome 2
            Genitourinary Tract Anomalies 0
            IMAGEI Syndrome 1
            IMAGe syndrome 1
            Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 0
            Lissencephaly, X-Linked, 2 1
            Microcephaly Seizures Genital Hypoplasia 0
            Microphthalmia, Syndromic 6 1
            Multicystic Dysplastic Kidney + 9
            Multiple Noduli Cutanei with Urinary Tract Abnormalities 0
            Myotubular Myopathy with Abnormal Genital Development 0
            Nephrosis Deafness Urinary Tract Digital Malformation 0
            Omphalocele Exstrophy Imperforate Anus 0
            Piepkorn Karp Hickok syndrome 0
            Proud Syndrome 1
            Pyelectasis 0
            Renal Dysplasia - Limb Defects Syndrome 0
            Renal, Genital, and Middle Ear Anomalies 0
            Retrocaval Ureter 0
            Robinow syndrome + 8
            Rosselli-Gulienetti Syndrome 0
            Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 0
            Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 0
            Structural Heart Defects and Renal Anomalies Syndrome 1
            Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 1
            Urinary Fistula + 0
            Uterine Anomalies 0
            blepharophimosis, ptosis, and epicanthus inversus syndrome 3
            cryptorchidism + 51
            hand-foot-genital syndrome 1
            hypospadias + 19
            popliteal pterygium syndrome + 2
            renal agenesis + 9
            sex development disorder + 100
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.