loading...| Preferred Name |
Denys-Drash Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84668 |
| 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 condition comprising congenital nephrotic syndrome, developmental sex disorder and Wilms tumor; associated with mutation(s) in the WT1 gene. |
| code |
C84668 |
| Concept_In_Subset | |
| Contributing_Source |
NICHD |
| 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. |
| FULL_SYN |
Denys Drash Syndrome Nephrotic Syndrome Type 4 DDS |
| Has_NICHD_Parent | |
| label |
Denys-Drash Syndrome |
| NICHD_Hierarchy_Term |
Denys-Drash Syndrome |
| Preferred_Name |
Denys-Drash Syndrome |
| prefixIRI |
C84668 |
| prefLabel |
Denys-Drash Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0950121 |
| subClassOf |