| Metadata | |
|---|---|
| ID | DOID:0061280 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061280 Copy |
| Name | Senior-Loken syndrome 6 |
| 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. https://pubmed.ncbi.nlm.nih.gov/16682973/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |