Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
medical condition
disorder of sex development |
| gptkbp:affects |
humans
|
| gptkbp:alsoKnownAs |
gptkb:46,XY_gonadal_dysgenesis
|
| gptkbp:causedBy |
mutations in SRY gene
mutations in DHH gene mutations in NR5A1 gene |
| gptkbp:characterizedBy |
lack of secondary sexual characteristics
primary amenorrhea female external genitalia nonfunctional streak gonads |
| gptkbp:chromosomalPattern |
46,XY
|
| gptkbp:diagnosedBy |
karyotype analysis
genetic testing |
| gptkbp:firstDescribed |
1955
|
| https://www.w3.org/2000/01/rdf-schema#label |
Swyer syndrome
|
| gptkbp:ICD-10_code |
Q96.0
|
| gptkbp:inheritance |
sporadic
|
| gptkbp:namedAfter |
G.I.M. Swyer
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
gonadoblastoma
|
| gptkbp:symptom |
infertility
delayed puberty |
| gptkbp:treatment |
hormone replacement therapy
gonadectomy |
| gptkbp:bfsParent |
gptkb:SRY_gene
|
| gptkbp:bfsLayer |
7
|