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ONTOLOGY REPORT - ANNOTATIONS


Term:46, XX Testicular Disorders of Sex Development
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Accession:DOID:9007327 term browser browse the term
Definition:Congenital conditions in individuals in which male GONADS develop in a genetic female (female to male sex reversal).
Synonyms:exact_synonym: 46, XX Gonadal Sex Reversal;   46, XX Testicular DSD;   46, XX Testicular Disorder of Sex Development;   XX Male Syndrome;   XX Male Syndromes;   XX Sex Reversal;   XX Sex Reversals;   XX testicular DSD ;   XX testicular DSD (Disorder of Sexual Development);   XXSR
 primary_id: MESH:D058531;   RDO:0007835
 alt_id: OMIA:000901
For additional species annotation, visit the Alliance of Genome Resources.


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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 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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      endocrine system disease 4837
        gonadal disease 857
          sex development disorder 102
            46, XX Disorders of Sex Development 25
              46, XX Testicular Disorders of Sex Development 4
                46,XX Sex Reversal 1 1
                46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 2
                Palmoplantar Hyperkeratosis and True Hermaphroditism 1
                Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        Congenital Abnormalities 3732
          Urogenital Abnormalities 236
            sex development disorder 102
              46, XX Disorders of Sex Development 25
                46, XX Testicular Disorders of Sex Development 4
                  46,XX Sex Reversal 1 1
                  46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 2
                  Palmoplantar Hyperkeratosis and True Hermaphroditism 1
                  Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.