Version: 8.0.0
Date: Tue Jan 28 2025
mucopolysaccharidosis Ih/s
DOID:0111389
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

mucopolysaccharidosis Ih/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.
Synonyms
  • MPS1H/S
  • MPSIH/S
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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