| Metadata | |
|---|---|
| ID | DOID:0111682 |
| Name | diffuse 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. https://www.ncbi.nlm.nih.gov/pubmed/21922595, https://www.ncbi.nlm.nih.gov/pubmed/8725780 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CYSRD [EXACT] renal dysplasia diffuse cystic [EXACT] susceptibility to cystic renal dysplasia [EXACT] |
| Parent Relationships |