DeCS Server - List Exact Term

1 / 1

DeCS

Descriptor English:

Frasier Syndrome

Descriptor Spanish:

Síndrome de Frasier

Descriptor Portuguese:

Síndrome de Frasier

Synonyms English:

Syndrome, Frasier

Tree Number:

Definition English:

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.

Indexing Annotation English:

do not confuse with FRASER SYNDROME

See Related English:

History Note English:

2006; use DENYS-DRASH SYNDROME 2002-2005

Allowable Qualifiers English:

Record Number:

50492

Unique Identifier:

D052159

Similar:

DeCS