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46,XX sex reversal 5 - Ontology Report - Rat Genome Database

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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 5
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Accession:DOID:0080943 term browser browse the term
Definition:A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26. (DO)
Synonyms:exact_synonym: SRXX5
 primary_id: MIM:618901
 alt_id: DOID:9009108

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46,XX sex reversal 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO ClinVar Annotator: match by term: 46,xx sex reversal 5 OMIM
ClinVar		 PMID:25741868 PMID:27363585 PMID:29478779 NCBI chr 1:133,419,161...133,434,290
Ensembl chr 1:124,009,181...124,022,031 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                46,XX sex reversal 5 1
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        Congenital Abnormalities 7894
          Urogenital Abnormalities 462
            disorder of sexual development 238
              46, XX Disorders of Sex Development 36
                46,XX sex reversal 7
                  46,XX sex reversal 5 1
paths to the root