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Human Disease

diffuse cystic renal dysplasia

Term ID
DOID:0111682
Synonyms
  • 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. (2)
References
  • GARD:4658
  • MIM:601331
Ontology
Human Disease   ( DOID:0111682 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations