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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 5
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Accession:DOID:0111776 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 homozygous or compound heterozygous mutation in CBX2 on chromosome 17q25.3. (DO)
Synonyms:exact_synonym: 46,XY SEX REVERSAL, CBX2-RELATED;   46,Xy Gonadal Dysgenesis, Complete, Cbx2-Related;   Disorder Of Sex Development, 46,Xy, Cbx2-Related;   SRXY5;   XY sex reversal, CBX2-related
 primary_id: MESH:C567766
 alt_id: OMIM:613080
For additional species annotation, visit the Alliance of Genome Resources.


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46,XY sex reversal 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbx2 chromobox 2 ISO ClinVar Annotator: match by OMIM:613080 OMIM
ClinVar
PMID:19361780, PMID:25741868 NCBI chr10:108,132,105...108,140,935
Ensembl chr10:108,132,105...108,140,935
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                46,XY sex reversal 5 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Urogenital Abnormalities 286
            disorder of sexual development 182
              46, XY Disorders of Sex Development 42
                46,XY sex reversal 16
                  46,XY sex reversal 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.