| Term Name: | Senior-Loken syndrome 9 |
|---|---|
| Synonyms: | |
| Definition: | A Senior-Loken syndrome characterized by early-onset nephronophthisis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAF3IP1 gene on chromosome 2q37. |
| Ontology: | Human Disease [DOID:0061283] ( DOID:0061283 ) |