Terminology Service for NFDI4Health

diffuse cystic renal dysplasia

Go to external page http://purl.obolibrary.org/obo/DOID_0111682


A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in BICC1 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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

diffuse cystic renal dysplasia

Synonyms
  • CYSRD
  • renal dysplasia diffuse cystic
  • susceptibility to cystic renal dysplasia
database cross reference
has obo namespace

disease_ontology

id

DOID:0111682