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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 4
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Accession:DOID:0111771 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 but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. (DO)
Synonyms:exact_synonym: SRXY4;   chromosome 9p24.3 deletion syndrome;   complete or partial 46,XY gonadal dysgenesis with 9p24.3 deletion
 xref: MESH:C567887;   MIM:154230;   MONDO:0007938;   NCI:C132270


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46,XY sex reversal 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMRT1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 4 ClinVar PMID:25741868 NCBI chr 1:89,677,554...89,790,692
Ensembl chr 1:89,677,533...89,790,145 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15721
    syndrome 10494
      chromosomal deletion syndrome 1519
        46,XY sex reversal 4 1
Path 2
Term Annotations click to browse term
  disease 15721
    Developmental Disease 13694
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12736
        Congenital Abnormalities 7659
          Urogenital Abnormalities 444
            disorder of sexual development 230
              gonadal dysgenesis 55
                46,XY sex reversal 16
                  46,XY sex reversal 4 1
paths to the root