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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


show annotations for term's descendants           Sort by:
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 IAGP ClinVar Annotator: match by term: 46,XX sex reversal 1 ClinVar
OMIM		 PMID:25741868 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
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 IAGP ClinVar Annotator: match by term: 46,XX sex reversal 2 ClinVar
OMIM		 PMID:21208124 PMID:22051515 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		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 IAGP 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 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		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 IAGP ClinVar Annotator: match by term: 46,xx sex reversal 5 OMIM
ClinVar		 PMID:25741868 PMID:27363585 PMID:29478779 NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263 		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 IAGP ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:25741868 PMID:28492532 PMID:29566152 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G WNT4 Wnt family member 4 IAGP ClinVar Annotator: match by term: SERKAL syndrome
ClinVar Annotator: match by term: WNT4-related condition		 ClinVar
OMIM		 PMID:18179883 PMID:25741868 PMID:28492532 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		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 IAGP ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism ClinVar PMID:18085567 NCBI chr 1:37,611,350...37,634,892
Ensembl chr 1:37,611,350...37,634,892 		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 IAGP
EXP		 ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal
ClinVar Annotator: match by term: RSPO1-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 NCBI chr 1:37,611,350...37,634,892
Ensembl chr 1:37,611,350...37,634,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 53596
    disease of anatomical entity 49284
      endocrine system disease 11233
        gonadal disease 1707
          disorder of sexual development 304
            gonadal dysgenesis 85
              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 53596
    Developmental Disease 33540
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 29024
        Congenital Abnormalities 15330
          Urogenital Abnormalities 591
            disorder of sexual development 304
              46, XX Disorders of Sex Development 48
                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