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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,XX sex reversal 4
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Accession:DOID:0111764 term browser browse the term
Definition:A 46,XX sex reversal that has_material_basis_in heterozygous mutation in NR5A1 on chromosome 9q33.3. (DO)
Synonyms:exact_synonym: SRXX4
 primary_id: OMIM:617480
For additional species annotation, visit the Alliance of Genome Resources.



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46,XX sex reversal 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: 46,XX sex reversal 4 OMIM
ClinVar
PMID:11932325 PMID:22549935 PMID:25741868 PMID:26523528 PMID:27378692 More... NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          monogenic disease 7172
            autosomal genetic disease 6319
              autosomal dominant disease 4482
                46,XX sex reversal 4 1
Path 2
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        Congenital Abnormalities 5599
          Urogenital Abnormalities 341
            disorder of sexual development 181
              46, XX Disorders of Sex Development 28
                46,XX sex reversal 7
                  46,XX sex reversal 4 1
paths to the root