DISEASES

Disease-gene associations mined from literature

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Human genes for mucopolysaccharidosis Ih

Mucopolysaccharidosis Ih [DOID:0111390]

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 IDUA on chromosome 4p16.3.

Synonyms:  mucopolysaccharidosis Ih,  DOID:0111390,  mucopolysaccharidosis Ihs,  dysostosis multiplex,  Dysostosis multiplex syndrome ...

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.