mucopolysaccharidosis I (DOID:12802)
Alliance: disease page
Synonyms: Hurler syndrome; Hurler-Scheie syndrome; iduronidase deficiency disease; Lipochondrodystrophy; MPS I - Hurler syndrome; Mucopolysaccharidosis, MPS-I; Mucopolysaccharidosis, type 1
Alt IDs: ICD10CM:E76.0, MESH:D008059, NCI:C85053, UMLS_CUI:C0023786
Definition: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.