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Diffuse Cystic Renal Dysplasia

Disease ID: disease_node_19891

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DbxrefGARD:4658, MIM:601331
SubclassofDOID_0050736, DOID_2975
Data SourceDOID
SynonymsCYSRD, renal dysplasia diffuse cystic, susceptibility to cystic renal dysplasia
Doid Labeldiffuse cystic renal dysplasia
Doid DescriptionA 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.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_19891
Doid IdDOID_0111682
LabelDiffuse Cystic Renal Dysplasia