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 )

Relationships
is a type of: Senior-Loken syndrome