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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-Scheie syndrome, Hurler syndrome, iduronidase deficiency disease, Lipochondrodystrophy, MPS I - Hurler syndrome, Mucopolysaccharidosis, MPS-I, Mucopolysaccharidosis, MPS-I (disorder), Mucopolysaccharidosis, type 1
Xenbase Genes : idua
MONDO:0001586 - mucopolysaccharidosis type 1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
mucopolysaccharidosis (is_a)