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Summary Literature (0)
DOID:12802 - mucopolysaccharidosis I


Disease Ontology Definition:A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.

Synonyms: Hurler syndrome, Hurler-Scheie syndrome, Lipochondrodystrophy, MPS I - Hurler syndrome, Mucopolysaccharidosis, MPS-I, Mucopolysaccharidosis, MPS-I (disorder), Mucopolysaccharidosis, type 1, iduronidase deficiency disease

Xenbase Genes : idua

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0001586 - mucopolysaccharidosis type 1

OMIM:
OMIM:607014 - HURLER SYNDROME
OMIM:607015 - HURLER-SCHEIE SYNDROME
OMIM:607016 - SCHEIE SYNDROME

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): mucopolysaccharidosis (is_a)