Disease ID | Source | Name | Description |
617805 | OMIM | Renal hypodysplasia/aplasia 3 (RHDA3) | A severe, autosomal dominant disease encompassing a spectrum of kidney development defects. Clinical manifestations are highly variable and include bilateral or unilateral renal agenesis, renal aplasia, hypoplasia, (cystic) dysplasia, severe obstructive uropathy, and vesicoureteral reflux. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period. Unilateral renal agenesis can lead to future health issues including end-stage renal disease. The disease is caused by variants affecting the gene represented in this entry. |