Term Name: mucopolysaccharidosis Ih/s
Synonyms: MPS1H/S, MPSIH/S, Mucopolysaccharidosis type 1H/S
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.
Ontology: Human Disease [DOID:0111389]   ( DOID:0111389 )

Relationships
is a type of: autosomal recessive disease mucopolysaccharidosis I