Hurler-Scheie syndrome
Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is 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
Hurler-Scheie syndrome
exact
Hurler–Scheie syndrome
related
MPS I H-S
exact
MPS1-HS
related
MPS1H/S
exact
MPSIH/S
exact
mucopolysaccharidosis IH/S
related
mucopolysaccharidosis type 1H/S
exact
mucopolysaccharidosis type IH/S
exact
mucopolysaccharidosis, mps-I-s
exact