DISEASES

Disease-gene associations mined from literature

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