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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 10
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Accession:DOID:0111775 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 heterozygous deletion of a region upstream of SOX9 on chromosome 17q24. (DO)
Synonyms:exact_synonym: SRXY10;   chromosome 17q24 deletion syndrome
 primary_id: OMIM:616425
For additional species annotation, visit the Alliance of Genome Resources.


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46,XY sex reversal 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by OMIM:616425 ClinVar
OMIM
PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      chromosomal deletion syndrome 881
        46,XY sex reversal 10 1
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        Congenital Abnormalities 5187
          Urogenital Abnormalities 261
            disorder of sexual development 156
              gonadal dysgenesis 49
                46,XY sex reversal 16
                  46,XY sex reversal 10 1
paths to the root