A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
nephronophthisis 1
MONDO:0009728
nephronophthisis 2
MONDO:0011190
nephronophthisis 3
MONDO:0011456
nephronophthisis 4
MONDO:0011752
nephronophthisis 7
MONDO:0012680
nephronophthisis-like nephropathy 1
MONDO:0013163