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
Accession: DOID:0111760
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
GViewer not supported for the selected species.
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Sox9
SRY-box transcription factor 9
ISO
ClinVar Annotator: match by term: 46,XX sex reversal 2
ClinVar
PMID:21208124 PMID:22051515
NCBI chrNW_004936655:1,849,044...1,852,648
Ensembl chrNW_004936655:1,847,272...1,852,705
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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 PMID:27490115 PMID:27610946 PMID:27855412 PMID:28033660 PMID:28492532 More...
NCBI chrNW_004936487:12,739,445...12,763,729
Ensembl chrNW_004936487:12,739,439...12,763,734
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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 chrNW_004936483:6,886,447...6,900,986
Ensembl chrNW_004936483:6,886,153...6,900,997
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis
ClinVar
PMID:25741868 PMID:28492532 PMID:29566152
NCBI chrNW_004936540:1,451,882...1,466,569
Ensembl chrNW_004936540:1,451,826...1,468,865
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Wnt4
Wnt family member 4
ISO
ClinVar Annotator: match by term: SERKAL syndrome
OMIM ClinVar
PMID:18179883 PMID:25741868
NCBI chrNW_004936474:7,623,462...7,635,416
Ensembl chrNW_004936474:7,623,463...7,635,664
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Rspo1
R-spondin 1
ISO
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism
ClinVar
PMID:18085567
NCBI chrNW_004936474:19,826,808...19,846,453
Ensembl chrNW_004936474:19,827,669...19,842,726
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Rspo1
R-spondin 1
ISO
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal
OMIM ClinVar
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532
NCBI chrNW_004936474:19,826,808...19,846,453
Ensembl chrNW_004936474:19,827,669...19,842,726
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16465
disease of anatomical entity
14117
endocrine system disease
5609
gonadal disease
1141
disorder of sexual development
216
gonadal dysgenesis
54
46,XX sex reversal
6
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs
2
46,XX sex reversal 1
0
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
disease
16465
Developmental Disease
16381
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
16324
Congenital Abnormalities
7061
Urogenital Abnormalities
414
disorder of sexual development
216
46, XX Disorders of Sex Development
32
46,XX sex reversal
6
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs
2
46,XX sex reversal 1
0
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