| Metadata | |
|---|---|
| ID | DOID:3764 |
| Name | Denys-Drash syndrome |
| Definition | A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=220&lng=EN |
| Xrefs |
SNOMEDCT_US_2023_03_01:236385009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |