Concept information
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Congenital Abnormalities
Urogenital Abnormalities
Disorders of Sex Development
Disorder of Sex Development, 46,XY
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Female Urogenital Diseases
Urogenital Abnormalities
Disorders of Sex Development
Disorder of Sex Development, 46,XY
Preferred term
Frasier Syndrome
Type
-
Topical Descriptor
Note
- do not confuse with FRASER SYNDROME
Scope note
- A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
History note
- 2006; use DENYS-DRASH SYNDROME 2002-2005
In other languages
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Finnish
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Frasier
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Frasierin syndrooma
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Swedish
URI
http://www.yso.fi/onto/mesh/D052159
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