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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 2
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Accession:DOID:0111777 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 duplication of the NR0B1 gene on chromosome Xp21.2. (DO)
Synonyms:exact_synonym: 46,XY sex reversal, DAX1-related;   46XY sex reversal 2, dosage-sensitive;   DSS;   SRXY2;   dosage-sensitive sex reversal
 primary_id: OMIM:300018
 xref: GARD:9159;   MESH:C535601;   MONDO:0010226;   NCI:C202543


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46,XY sex reversal 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XY sex reversal 2 | ClinVar Annotator: match by term: 46XY sex reversal 2, dosage-sensitive		 OMIM
CTD
ClinVar		 PMID:7990958 PMID:9195207 PMID:9486644 PMID:9529340 PMID:10599709 More... NCBI chr  X:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            X-linked monogenic disease 1369
              46,XY sex reversal 2 1
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        Congenital Abnormalities 7581
          Urogenital Abnormalities 445
            disorder of sexual development 233
              46, XY Disorders of Sex Development 83
                46,XY sex reversal 19
                  46,XY sex reversal 2 1
paths to the root