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 )

Relationships
is a type of: Senior-Loken syndrome