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Echinobase
Summary Literature (0)
DOID:0111682 - diffuse cystic renal dysplasia

Disease Ontology 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.

Synonyms: CYSRD, renal dysplasia diffuse cystic, susceptibility to cystic renal dysplasia,

Echinobase Genes : bicc1


OMIM:
MIM:601331 - renal dysplasia, cystic, susceptibility to; cysrd

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), cystic kidney disease (is_a)