FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mucopolysaccharidosis Ih/s ID (Ontology) DOID:0111389 (Human Disease)
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.
Also Known As "MPS1H/S" ; "MPSIH/S" ; "Mucopolysaccharidosis type 1H/S"
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 Genes
 mucopolysaccharidosis Ih/s       1
 for disease ribbon | mucopolysaccharidosis Ih/s       1
 model of | mucopolysaccharidosis Ih/s       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
mucopolysaccharidosis            |
 |__mucopolysaccharidosis I______|
                                 mucopolysaccharidosis Ih/s  1 rec.
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Is a autosomal recessive disease
mucopolysaccharidosis I
Part of
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Synonyms
  • "MPS1H/S" EXACT OMO:0003012
    "MPSIH/S" EXACT OMO:0003012
    "Mucopolysaccharidosis type 1H/S" EXACT
Secondary IDs
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GARD:12560
ICD10CM:E76.02
MESH:D008059
MIM:607015
NCI:C122782
ORDO:93476
SNOMEDCT_US_2023_03_01:26745009
UMLS_CUI:C0086431