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diffuse cystic renal dysplasia
Summary
- Synonym
-
- CYSRD
- renal dysplasia diffuse cystic
- susceptibility to cystic renal dysplasia
- Definition
- A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder.
- Super Class
- autosomal dominant disease cystic kidney disease
External Links
- Disease Ontology
- DOID:0111682
- Mondo Disease Ontology
- OMIM
- GARD
