|OBO ID: DOID:0111390|
|Term Name:||mucopolysaccharidosis Ih||Search Ontology:|
|Definition:||A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3. (2)|
|Ontology:||Human Disease (DOID:0111390)|
|is a type of:||
OTHER mucopolysaccharidosis Ih PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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