polycystic kidney disease 6

Term ID

DOID:0060951

Synonyms

Definition

An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. https://pubmed.ncbi.nlm.nih.gov/29706351/

References

• MIM:618061

Ontology

Human Disease   ( DOID:0060951 )