nephronophthisis 11
A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.
MONDO:0019005
nephronophthisis
is_a
MONDO:0019394
Senior-Boichis syndrome
is_a
NPHP11
exact
nephronophthisis 11
exact
nephronophthisis type 11
exact