|
gptkbp:instanceOf
|
gptkb:genetic_disorder
gptkb:intersex_condition
|
|
gptkbp:affects
|
gonads
|
|
gptkbp:alsoKnownAs
|
gptkb:Swyer_syndrome
|
|
gptkbp:associatedWith
|
gptkb:Swyer_syndrome
|
|
gptkbp:can_be_caused_by_mutation_in
|
gptkb:WT1_gene
gptkb:SRY_gene
gptkb:SOX9_gene
MAP3K1 gene
DAX1 gene
DHH gene
NR5A1 gene
SF1 gene
|
|
gptkbp:cause
|
lack of secondary sexual characteristics
female external genitalia
underdeveloped gonads
|
|
gptkbp:chromosomal_sex
|
gptkb:male
|
|
gptkbp:diagnosedBy
|
karyotype analysis
genetic testing
hormone testing
|
|
gptkbp:external_genitalia
|
gptkb:female
|
|
gptkbp:fertility
|
infertile
|
|
gptkbp:firstDescribed
|
1955
|
|
gptkbp:gonadal_tissue
|
streak gonads
|
|
gptkbp:has_karyotype
|
46,XY
|
|
gptkbp:hasPhenotype
|
gptkb:female
|
|
gptkbp:ICD-10_code
|
Q96.0
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
sporadic
X-linked
|
|
gptkbp:internal_genitalia
|
underdeveloped or absent
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:puberty
|
absent or incomplete
|
|
gptkbp:riskFactor
|
gonadal tumors
|
|
gptkbp:treatment
|
hormone replacement therapy
gonadectomy
|
|
gptkbp:bfsParent
|
gptkb:DMRT1
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
46,XY gonadal dysgenesis
|