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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:46,XY sex reversal 1
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Accession:DOID:0111778 term browser browse the term
Definition:A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2. (DO)
Synonyms:exact_synonym: 46,XY SEX REVERSAL, SRY-RELATED;   SRXY1
 narrow_synonym: 46,XY GONADAL DYSGENESIS, COMPLETE, SRY-46,XY TRUE HERMAPHRODITISM, SRY-RELATED;   SEX-REVERSING LOCUS ON X;   SRVX;   TDFX;   X-chromosomal testis-determining factor
 primary_id: MIM:400044
 xref: NCI:C128188


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        Urogenital Abnormalities 457
          disorder of sexual development 237
            Ovotesticular Disorders of Sex Development 1
              46,XY sex reversal 1 1
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Congenital Abnormalities 7780
          Urogenital Abnormalities 457
            disorder of sexual development 237
              gonadal dysgenesis 58
                46,XY sex reversal 18
                  46,XY sex reversal 1 1
paths to the root