polycystic kidney disease 7

Term ID

DOID:0060952

Synonyms

Definition

A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. https://pubmed.ncbi.nlm.nih.gov/35896117/

References

• MIM:620056

Ontology

Human Disease   ( DOID:0060952 )