1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111117 | nephronophthisis-like nephropathy 1 | A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
