DO_rare_slim NCIthesaurus has material basis in has symptom disease has feature autosomal recessive disease umbilical hernia mucopolysaccharidosis Ih/s disease_ontology DOID:0111389 SNOMEDCT_US_2025_09_01:26745009 ICD10CM:E76.02 MIM:607015 MPS1H/S Mucopolysaccharidosis type 1H/S NCI:C122782 GARD:12560 UMLS_CUI:C0086431 ORDO:93476 A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. MESH:D008059 MPSIH/S mucopolysaccharidosis I autosomal recessive inheritance hepatosplenomegaly cloudy cornea short stature