Term Name:	mucopolysaccharidosis Ih
Synonyms:	dysostosis multiplex, Dysostosis multiplex syndrome, gargoylism, Hurler disease MPS type 1H, Hurler-Pfaundler syndrome, L-iduronidase deficiency, Hurler type, MPS1-H, Mucopolysaccharidosis type I severe form
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 the IDUA gene on chromosome 4p16.3.
Ontology:	Human Disease [DOID:0111390]   ( DOID:0111390 )