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