DO_rare_slim NCIthesaurus has material basis in has phenotype has symptom autosomal recessive disease mucopolysaccharidosis Ih 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. ORDO:93473 SNOMEDCT_US_2025_09_01:65327002 Hurler-Pfaundler syndrome MESH:D008059 UMLS_CUI:C0086795 Dysostosis multiplex syndrome ICD10CM:E76.01 GARD:12559 L-iduronidase deficiency, Hurler type MIM:607014 MPS1-H Mucopolysaccharidosis type I severe form NCI:C61261 DOID:0111390 disease_ontology Hurler disease MPS type 1H dysostosis multiplex gargoylism mucopolysaccharidosis I autosomal recessive inheritance Coarse facial features Cognitive impairment hepatosplenomegaly