mucopolysaccharidosis Ih (DOID:0111390)
Alliance: disease page
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
Alt IDs: OMIM:607014, ICD10CM:E76.01, MESH:D008059, NCI:C61261, ORDO:93473, UMLS_CUI:C0086795
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.