Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
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
|
https://www.w3.org/2000/01/rdf-schema#label |
46,XY sex reversal
|
gptkbp:inheritance |
usually sporadic
|
gptkbp:phenotypicSex |
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
|