Meckel syndrome, type 5
Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.
MONDO:0018921
Meckel syndrome
is_a
MONDO:0800066
polydactyly-syndactyly-triphalangism
is_a
MKS5
exact
Meckel syndrome caused by mutation in RPGRIP1L
exact
Meckel syndrome, type 5
exact
RPGRIP1L Meckel syndrome
exact