mucopolysaccharidosis Ih/s

Term ID

DOID:0111389

Synonyms

• MPS1H/S
• MPSIH/S
• Mucopolysaccharidosis type 1H/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. (3)

References

• GARD:12560
• ICD10CM:E76.02
• MESH:D008059
• MIM:607015
• NCI:C122782
• ORDO:93476
• SNOMEDCT_US_2023_03_01:26745009
• UMLS_CUI:C0086431

Ontology

Human Disease   ( DOID:0111389 )