Term Name: | mucopolysaccharidosis I |
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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 ) |