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Metadata
ID DOID:3764
Name Denys-Drash syndrome
Definition An autosomal dominant disease 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

GARD:5576

MESH:D030321

NCI:C84668

OMIM:194080

UMLS_CUI:C0950121

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is_a autosomal dominant disease

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