About   Help   FAQ
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.

Disease References using Mouse Models (2)

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
MGI 6.13
The Jackson Laboratory