Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
humans
|
| gptkbp:alsoKnownAs |
gptkb:Swyer_syndrome
XY gonadal dysgenesis |
| gptkbp:category |
disorders of sex development
|
| gptkbp:cause |
mutations in SRY gene
mutations in other sex-determining genes |
| gptkbp:chromosomalSex |
46,XY
|
| gptkbp:diagnosedBy |
karyotype analysis
genetic testing |
| gptkbp:firstDescribed |
1955
|
| gptkbp:inheritance |
usually sporadic
|
| gptkbp:phenotypicSex |
gptkb:female
|
| gptkbp:riskFactor |
increased risk of gonadoblastoma
|
| gptkbp:symptom |
lack of secondary sexual characteristics
primary amenorrhea streak gonads |
| gptkbp:treatment |
hormone replacement therapy
gonadectomy |
| gptkbp:bfsParent |
gptkb:SOX9
gptkb:MAP3K1 |
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
46,XY sex reversal
|