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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Frasier Syndrome
... > Pathological Conditions, Signs and Symptoms > Pathologic Processes > Disease Attributes > Chronic Disease > Renal Insufficiency, Chronic > Kidney Failure, Chronic > Frasier Syndrome
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Insufficiency > Renal Insufficiency, Chronic > Kidney Failure, Chronic > Frasier Syndrome
... > Urogenital Diseases > Male Urogenital Diseases > Urologic Diseases > Kidney Diseases > Renal Insufficiency > Renal Insufficiency, Chronic > Kidney Failure, Chronic > Frasier Syndrome
Endocrine System Diseases > Gonadal Disorders > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Frasier Syndrome
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Frasier Syndrome
... > Urogenital Diseases > Male Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Frasier Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Urogenital Abnormalities > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Frasier Syndrome

Preferred term

Frasier Syndrome  

Type

  • mesh:Descriptor

Definition

  • 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.

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URI

http://data.loterre.fr/ark:/67375/JVR-D5JD0KJL-V

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RDF/XML TURTLE JSON-LD Created 6/30/05, last modified 6/7/21