hypomyelinating leukodystrophy 11
HLD11
exact
POLR1C leukodystrophy
exact
hypomyelinating leukodystrophy type 11
exact
leukodystrophy caused by mutation in POLR1C
exact
leukodystrophy, hypomyelinating, 11
related
leukodystrophy, hypomyelinating, type 11
exact
Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.
MONDO:0700278
POLR1C-related disorder
is_a
MONDO:0700282
POLR3-related leukodystrophy
is_a
SPBC1289.07c