Denys-Drash Syndrome, Incomplete

Preferred Label : Denys-Drash Syndrome, Incomplete;

NCIt definition : Condition comprising congenital nephrotic syndrome with associated WT1 gene mutation with either intersex disorder or Wilms tumor.;

Alternative definition : NICHD: A condition comprised by congenital nephrotic syndrome coupled with either developmental sex disorder or Wilms tumor, and which is associated with mutation(s) in the WT1 gene.;

Details

Origin ID

C121209;

UMLS CUI

C4055156;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 11 [NCIt concept]
disease_mapped_to_gene
- WT1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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