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Disease Ontology Browser
mucopolysaccharidosis Ih (DOID:0111390)
Alliance: disease page
Synonyms: dysostosis multiplex; Dysostosis multiplex syndrome; gargoylism; Hurler disease MPS type 1H; Hurler-Pfaundler syndrome; L-iduronidase deficiency, Hurler type; MPS1-H; Mucopolysaccharidosis type I severe form
Alt IDs: OMIM:607014, ICD10CM:E76.01, MESH:D008059, NCI:C61261, ORDO:93473, UMLS_CUI:C0086795
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
09/19/2023
MGI 6.22
The Jackson Laboratory