Term Name: mucopolysaccharidosis I
Synonyms: Hurler syndrome, Hurler-Scheie syndrome, iduronidase deficiency disease, Lipochondrodystrophy, MPS I - Hurler syndrome, Mucopolysaccharidosis, MPS-I, Mucopolysaccharidosis, type 1
Definition: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
Ontology: Human Disease [DOID:12802]   ( DOID:12802 )

Relationships
is a type of: mucopolysaccharidosis
has subtype: mucopolysaccharidosis Ih mucopolysaccharidosis Ih/s Scheie syndrome