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ONTOLOGY REPORT - ANNOTATIONS


Term:sex development disorder
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Accession:DOID:1923 term browser browse the term
Definition:In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.
Synonyms:exact_synonym: Disorders of Sex Development;   Genital Ambiguity;   Intersex Condition;   Intersex Conditions;   Intersexualities;   Intersexuality;   Pseudohermaphroditism;   Sex Development Disorders;   Sex Differentiation Disorder;   Sex Differentiation Disorders;   Sexual Development Disorder;   ambiguous genitalia;   disorder of sexual differentiation;   disorders of sexual development;   genital ambiguities;   sex differentiation disease;   sexual development disorders;   sexual differentiation disorder;   sexual differentiation disorders
 primary_id: MESH:D012734
 alt_id: RDO:0002153
For additional species annotation, visit the Alliance of Genome Resources.


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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      endocrine system disease 4803
        gonadal disease 846
          sex development disorder 100
            46, XX Disorders of Sex Development + 24
            46, XY Disorders of Sex Development + 37
            Adrenogenital Syndrome + 25
            Campomelic Dysplasia with Autosomal Sex Reversal 1
            MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME 1
            Ovotesticular Disorders of Sex Development + 1
            Sex Chromosome Disorders of Sex Development + 16
            Verloes Gillerot Fryns Syndrome 0
            androgen insensitivity syndrome + 3
            freemartinism 0
            gonadal dysgenesis + 42
            gynecomastia + 8
            hermaphroditism 0
            hyperandrogenism + 4
            pseudohermaphroditism + 4
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
            sex development disorder 100
              46, XX Disorders of Sex Development + 24
              46, XY Disorders of Sex Development + 37
              Adrenogenital Syndrome + 25
              Campomelic Dysplasia with Autosomal Sex Reversal 1
              MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME 1
              Ovotesticular Disorders of Sex Development + 1
              Sex Chromosome Disorders of Sex Development + 16
              Verloes Gillerot Fryns Syndrome 0
              androgen insensitivity syndrome + 3
              freemartinism 0
              gonadal dysgenesis + 42
              gynecomastia + 8
              hermaphroditism 0
              hyperandrogenism + 4
              pseudohermaphroditism + 4
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.