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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 (disorder), Mucopolysaccharidosis, type 1, iduronidase deficiency disease,
Echinobase Genes :
MIM:607014 - hurler syndrome |
MIM:607015 - hurler-scheie syndrome |
MIM: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)