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ONTOLOGY REPORT - ANNOTATIONS


Term:46 XY gonadal dysgenesis
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Accession:DOID:14448 term browser browse the term
Definition:Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.
Synonyms:exact_synonym: 46, XY Gonadal Sex Reversal;   46,XY Complete Gonadal Dysgenesis;   46,XY DSD/46,XY CGD;   46,XY SEX REVERSAL;   Pure Gonadal Dysgenesis 46,XY;   Swyer Syndrome;   XY Pure Gonadal Dysgenesis
 primary_id: MESH:D006061
 alt_id: RDO:0002452
 xref: NCI:C120198;   OMIM:PS400044
For additional species annotation, visit the Alliance of Genome Resources.


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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 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
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
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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      endocrine system disease 4813
        gonadal disease 849
          sex development disorder 100
            gonadal dysgenesis 42
              46 XY gonadal dysgenesis 14
                46, XY Female 0
                46, XY Sex Reversal 5 1
                46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 1
                46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 1
                46,XY SEX REVERSAL 10 1
                46,XY Sex Reversal 1 1
                46,XY Sex Reversal 4 1
                46,XY Sex Reversal 6 1
                46,XY Sex Reversal 9 1
                46,Xy Gonadal Dysgenesis, Complete, Sry-Related 1
                Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 0
                Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
                Anorchia 0
                Genito Palato Cardiac Syndrome 0
                Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 1
                Gonadal Dysgenesis, XY Type, with Associated Anomalies 0
                Kennerknecht Vogel Syndrome 0
                Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase 2
                Meacham Winn Culler Syndrome 1
                Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
                congenital adrenal insufficiency 1
                gonadoblastoma + 0
Path 2
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        Congenital Abnormalities 3618
          Urogenital Abnormalities 232
            sex development disorder 100
              46, XY Disorders of Sex Development 37
                46 XY gonadal dysgenesis 14
                  46, XY Female 0
                  46, XY Sex Reversal 5 1
                  46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 1
                  46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 1
                  46,XY SEX REVERSAL 10 1
                  46,XY Sex Reversal 1 1
                  46,XY Sex Reversal 4 1
                  46,XY Sex Reversal 6 1
                  46,XY Sex Reversal 9 1
                  46,Xy Gonadal Dysgenesis, Complete, Sry-Related 1
                  Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 0
                  Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
                  Anorchia 0
                  Genito Palato Cardiac Syndrome 0
                  Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 1
                  Gonadal Dysgenesis, XY Type, with Associated Anomalies 0
                  Kennerknecht Vogel Syndrome 0
                  Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase 2
                  Meacham Winn Culler Syndrome 1
                  Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
                  congenital adrenal insufficiency 1
                  gonadoblastoma + 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.