FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mucopolysaccharidosis Ih ID (Ontology) DOID:0111390 (Human Disease)
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.
Also Known As "dysostosis multiplex" ; "Dysostosis multiplex syndrome" ; "gargoylism" (for all, see Synonyms field below)
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 Genes
 mucopolysaccharidosis Ih       1
 for disease ribbon | mucopolysaccharidosis Ih       1
 model of | mucopolysaccharidosis Ih       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
mucopolysaccharidosis            |
 |__mucopolysaccharidosis I______|
                                 mucopolysaccharidosis Ih  1 rec.
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Is a autosomal recessive disease
mucopolysaccharidosis I
Part of
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Synonyms
  • "dysostosis multiplex" EXACT
    "Dysostosis multiplex syndrome" EXACT
    "gargoylism" EXACT
    "Hurler disease MPS type 1H" EXACT
    "Hurler-Pfaundler syndrome" EXACT
    "L-iduronidase deficiency, Hurler type" EXACT
    "MPS1-H" EXACT OMO:0003012
    "Mucopolysaccharidosis type I severe form" EXACT
Secondary IDs
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GARD:12559
ICD10CM:E76.01
MESH:D008059
MIM:607014
NCI:C61261
ORDO:93473
SNOMEDCT_US_2023_03_01:65327002
UMLS_CUI:C0086795