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 (disorder), Mucopolysaccharidosis, type 1, iduronidase deficiency disease,

Echinobase Genes :


OMIM:

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