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Summary Literature (0)
DOID:0111390 - mucopolysaccharidosis Ih


Disease Ontology Definition:A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3.

Synonyms: Dysostosis multiplex syndrome, Hurler disease MPS type 1H, Hurler-Pfaundler syndrome, L-iduronidase deficiency, Hurler type, MPS1-H, Mucopolysaccharidosis type I severe form, dysostosis multiplex, gargoylism

Xenbase Genes : idua


OMIM:
OMIM:607014 - HURLER SYNDROME

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

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