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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
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Accession:DOID:0111760 term browser browse the term
Definition:A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous. (DO)
Synonyms:exact_synonym: 46, XX Testicular DSD;   46, XX Testicular Disorder of Sex Development;   46, XX Testicular Disorders of Sex Development;   46, XX gonadal sex reversal;   De la Chapelle syndrome;   SRXX;   XX Male Syndrome;   XX Male Syndromes;   XX Sex Reversal;   XX Sex Reversals;   XX testicular DSD;   XX testicular DSD (disorder of sexual development);   XXSR
 primary_id: MESH:D058531
 alt_id: OMIA:000901
 xref: GARD:399;   ORDO:393
For additional species annotation, visit the Alliance of Genome Resources.



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46,XX sex reversal 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XX SEX REVERSAL, SRY-POSITIVE OMIM
ClinVar
PMID:25741868
46,XX sex reversal 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by synonym: CHROMOSOME 17q24 DUPLICATION SYNDROME
ClinVar Annotator: match by term: CHROMOSOME 17q24 DUPLICATION SYNDROME
ClinVar
OMIM
PMID:21208124 PMID:22051515 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
JBrowse link
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
JBrowse link
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:27363585 PMID:29478779 NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
JBrowse link
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:29566152 NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Serkal syndrome
ClinVar Annotator: match by OMIM:611812
OMIM
ClinVar
PMID:18179883 PMID:25741868 NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
JBrowse link
Palmoplantar Hyperkeratosis and True Hermaphroditism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by null ClinVar PMID:18085567 NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal ClinVar
OMIM
PMID:16158431 PMID:17041600 NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      endocrine system disease 5873
        gonadal disease 1040
          disorder of sexual development 183
            gonadal dysgenesis 50
              46,XX sex reversal 7
                46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 2
                46,XX sex reversal 1 1
                46,XX sex reversal 2 1
                46,XX sex reversal 3 0
                46,XX sex reversal 4 1
                46,XX sex reversal 5 1
                Palmoplantar Hyperkeratosis and True Hermaphroditism 1
                Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        Congenital Abnormalities 5794
          Urogenital Abnormalities 345
            disorder of sexual development 183
              46, XX Disorders of Sex Development 28
                46,XX sex reversal 7
                  46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 2
                  46,XX sex reversal 1 1
                  46,XX sex reversal 2 1
                  46,XX sex reversal 3 0
                  46,XX sex reversal 4 1
                  46,XX sex reversal 5 1
                  Palmoplantar Hyperkeratosis and True Hermaphroditism 1
                  Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
paths to the root