Scheie syndrome
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
MONDO:0001586
mucopolysaccharidosis type 1
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
MPS I S
exact
MPS1-S
related
MPS1S
exact
MPS5, formerly
related
MPSIS
exact
Scheie syndrome
exact
mucopolysaccharidosis Is
related
mucopolysaccharidosis type 1S
exact
mucopolysaccharidosis type IS
exact