|OBO ID: DOID:0111389|
|Term Name:||mucopolysaccharidosis Ih/s||Search Ontology:|
|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 IDUA on chromosome 4p16.3. (3)|
|Ontology:||Human Disease (DOID:0111389)|
|is a type of:||
OTHER mucopolysaccharidosis Ih/s PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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