Hurler syndrome
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.
MONDO:0001586
mucopolysaccharidosis type 1
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
Hurler disease
exact
Hurler syndrome
exact
MPS I H
exact
MPS1-H
related
MPS1H
exact
MPSIH
exact
mucopolysaccharidosis IH
related
mucopolysaccharidosis type 1H
exact
mucopolysaccharidosis type IH
exact