Version: 8.0.0
Date: Tue Jan 28 2025
mucopolysaccharidosis Ih
DOID:0111390
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

mucopolysaccharidosis Ih

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 the IDUA gene on chromosome 4p16.3.
Synonyms
  • dysostosis multiplex
  • Dysostosis multiplex syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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