mucolipidosis type III, alpha/beta
Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.
MONDO:0031422
familial mucolipidosis
is_a
MONDO:0100122
GNPTAB-mucolipidosis
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
ML 3
broad
ML 3 A
related
ML 3 alpha/beta
exact
ML III alpha/beta
exact
ML3
broad
MLIII
exact
Pseudo Hurler Polydystrophy
exact
mucolipidosis 3
broad
mucolipidosis III
broad
mucolipidosis type 3 alpha/beta
exact
mucolipidosis type 3A
related
mucolipidosis type III
exact
pseudo-Hurler polydystrophy
exact