loading...| Preferred Name |
Denys-Drash Syndrome |
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| Synonyms |
Denys-Drash syndrome Denys-Drash Syndrome Denys Drash Syndrome Nephrotic Syndrome Type 4 DDS |
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| Definitions |
A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84668 |
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| ALT_DEFINITION |
A rare disorder that causes kidney failure before age 3, abnormal development of the sexual organs, and, in most cases, Wilms tumor (a type of kidney cancer). Children with Denys-Drash syndrome are also at high risk of some other types of cancer. A Wilms tumor 1 gene syndrome caused by various point mutation(s) affecting the zinc finger(s) of the Wilms tumor protein. This syndrome is characterized by congenital nephropathy (diffuse mesangial sclerosis), gonadal dysgenesis resulting in atypical genital and reproductive tract development in male infants, and high risk for development of Wilms tumor, an embryonal neoplasm defined by the presence of epithelial, mesenchymal, and blastema components. |
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| code |
C84668 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123272 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186315 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
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| Contributing_Source |
Cellosaurus GDC NICHD PCDC |
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| DEFINITION |
A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders. |
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| FULL_SYN |
Denys-Drash syndrome Denys-Drash Syndrome Denys Drash Syndrome Nephrotic Syndrome Type 4 DDS |
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| Is_Value_For_GDC_Property | ||
| label |
Denys-Drash Syndrome |
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| Maps_To |
Denys-Drash Syndrome |
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| Preferred_Name |
Denys-Drash Syndrome |
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| prefixIRI |
Thesaurus:C84668 |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0950121 |
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| subClassOf |