mucopolysaccharidosis Ih

Summary

DOID:0111390 - mucopolysaccharidosis Ih

Disease Ontology 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.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: idua

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), mucopolysaccharidosis I (is_a)