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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 NR0B1 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: MESH:C535601
 alt_id: OMIM:300018
 xref: GARD:9159
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:300018 OMIM
ClinVar
PMID:9486644 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            X-linked monogenic disease 920
              46,XY sex reversal 2 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Urogenital Abnormalities 285
            disorder of sexual development 181
              46, XY Disorders of Sex Development 42
                46,XY sex reversal 16
                  46,XY sex reversal 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.