Treacher Collins syndrome 2
Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.
MONDO:0002457
Treacher-Collins syndrome
is_a
POLR1D Treacher-Collins syndrome
exact
TCS2
related
Treacher Collins syndrome 2
exact
Treacher Collins syndrome type 2
exact
Treacher-Collins syndrome caused by mutation in POLR1D
exact
SPAC1687.01