OBO ID: DOID:0111389 |
Term Name: | mucopolysaccharidosis Ih/s | Search Ontology: | |
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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. (3) | ||
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Ontology: | Human Disease ( DOID:0111389 ) |
OTHER mucopolysaccharidosis Ih/s PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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