mucopolysaccharidosis Ih/s (DOID:0111389)
Alliance: disease page
Synonyms: MPS1H/S; MPSIH/S; Mucopolysaccharidosis type 1H/S
Alt IDs: OMIM:607015, ICD10CM:E76.02, MESH:D008059, NCI:C122782, ORDO:93476, UMLS_CUI:C0086431
Definition: 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.