ONTOLOGY REPORT - ANNOTATIONS


Term:46, XY Disorders of Sex Development
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Accession:DOID:9003766 term browser browse the term
Definition:Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.
Synonyms:exact_synonym: 46,XY DSD;   46,XY DSDs;   46,XY Gonadal Dysgenesis, Complete or Partial, With or Without Adrenal Failure;   46,XY Sex Reversal 3;   46,XY Sex Reversal, Partial or Complete, NR5A1-Related;   DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED;   Disorder of Sex Development, 46,XY;   Male Pseudohermaphroditism;   Male Pseudohermaphroditisms;   SRXY3;   Sex Reversal, XY, With Or Without Adrenal Failure
 primary_id: MESH:D058490;   RDO:0000952
 alt_id: OMIM:612965
For additional species annotation, visit the Alliance of Genome Resources.


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46, XY Disorders of Sex Development 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 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
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
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
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,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
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
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
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 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
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
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
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
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
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 beta polypeptide 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
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
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
Pseudovaginal Perineoscrotal Hypospadias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:8554872
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:8554872
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:8554872
G Srd5a2 steroid 5 alpha-reductase 2 JBrowse link 6 25,279,635 25,315,501 RGD:7240710
RGD:8554872
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
WAGR syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      endocrine system disease 4702
        gonadal disease 848
          sex development disorder 116
            46, XY Disorders of Sex Development 41
              17-Hydroxysteroid Dehydrogenase Deficiency + 4
              46 XY gonadal dysgenesis + 13
              46,Xy True Hermaphroditism, Sry-Related 1
              Denys-Drash syndrome 2
              Frasier syndrome 1
              Kallmann syndrome + 8
              Leydig Cell Hypoplasia 1
              Lipoid Congenital Adrenal Hyperplasia 2
              Male Pseudohermaphroditism due to Defective LH Molecule 1
              Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 0
              Pseudovaginal Perineoscrotal Hypospadias 5
              Testicular Anomalies with or without Congenital Heart Disease 1
              Urioste Martinez-Frias Syndrome 0
              WAGR syndrome + 2
              androgen insensitivity syndrome + 3
              chondrodysplasia-pseudohermaphroditism syndrome 1
              persistent Mullerian duct syndrome 2
Path 2
Term Annotations click to browse term
  disease 14919
    Developmental Diseases 7761
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7082
        Congenital Abnormalities 3196
          Urogenital Abnormalities 247
            sex development disorder 116
              46, XY Disorders of Sex Development 41
                17-Hydroxysteroid Dehydrogenase Deficiency + 4
                46 XY gonadal dysgenesis + 13
                46,Xy True Hermaphroditism, Sry-Related 1
                Denys-Drash syndrome 2
                Frasier syndrome 1
                Kallmann syndrome + 8
                Leydig Cell Hypoplasia 1
                Lipoid Congenital Adrenal Hyperplasia 2
                Male Pseudohermaphroditism due to Defective LH Molecule 1
                Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 0
                Pseudovaginal Perineoscrotal Hypospadias 5
                Testicular Anomalies with or without Congenital Heart Disease 1
                Urioste Martinez-Frias Syndrome 0
                WAGR syndrome + 2
                androgen insensitivity syndrome + 3
                chondrodysplasia-pseudohermaphroditism syndrome 1
                persistent Mullerian duct syndrome 2
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.