| Descriptor English: | Frasier Syndrome | ||||
| Descriptor Spanish: |
Síndrome de Frasier
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| Descriptor Portuguese: | Síndrome de Frasier | ||||
| Descriptor French: | Syndrome de Frasier | ||||
| Entry term(s): |
Syndrome, Frasier |
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| Tree number(s): |
C12.050.351.875.253.096.624 C12.050.351.968.419.780.750.500.500 C12.200.706.316.096.624 C12.200.777.419.780.750.500.500 C12.800.316.096.624 C12.950.419.780.750.500.500 C16.131.939.316.096.624 C16.320.306 C19.391.119.096.624 C23.550.291.500.906.500.500 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D052159 | ||||
| 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. |
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| Annotation: | do not confuse with FRASER SYNDROME |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 2006; see DENYS-DRASH SYNDROME 2002-2005 |
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| History Note: | 2006; use DENYS-DRASH SYNDROME 2002-2005 |
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| Related: |
Fraser Syndrome
MeSH | ||||
| DeCS ID: | 50492 | ||||
| Unique ID: | D052159 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 2006/01/01 | ||||
| Date of Entry: | 2005/06/30 | ||||
| Revision Date: | 2012/07/03 |
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Frasier Syndrome
- Preferred
| Concept UI |
M0391904 |
| 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. |
| Preferred term | Frasier Syndrome |
| Entry term(s) |
Syndrome, Frasier |
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