| Term Name: | Senior-Loken syndrome 6 |
|---|---|
| Synonyms: | |
| Definition: | A Senior-Loken syndrome characterized by the association of nephronophthisis resulting in end-stage renal disease in the second decade of life with retinal degeneration that has_material_basis_in homozygous mutation in the NPHP6 gene on chromosome 12q21. |
| Ontology: | Human Disease [DOID:0061280] ( DOID:0061280 ) |