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loading...| Preferred Name |
Frasier syndrome |
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| Synonyms |
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| Definitions |
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 on chromosome 11. |
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| ID |
http://purl.obolibrary.org/obo/GSSO_006966 |
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| 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 on chromosome 11. |
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| Disease Ontology ID | ||
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| label |
Frasier syndrome |
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| Medical Dictionary for Regulatory Activities ID | ||
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| prefixIRI |
GSSO:006966 |
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| prefLabel |
Frasier syndrome |
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| SNOMED CT Identifier | ||
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