Human genes for mucopolysaccharidosis Ih/s
Mucopolysaccharidosis Ih/s [DOID:0111389]
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 IDUA on chromosome 4p16.3.
Synonyms: mucopolysaccharidosis Ih/s, DOID:0111389, MPS1H/S, MPSIH/S, Mucopolysaccharidosis type 1H/S