Term Name: | mucopolysaccharidosis Ih/s |
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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 ) |