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Repository for lectin-assisted multimodality data
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MIRAGE
mucopolysaccharidosis Ih
Summary
- Synonym
-
- Dysostosis multiplex syndrome
- Hurler disease MPS type 1H
- Hurler-Pfaundler syndrome
- L-iduronidase deficiency, Hurler type
- MPS1-H
- Mucopolysaccharidosis type I severe form
- dysostosis multiplex
- gargoylism
- 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.
- Super Class
- autosomal recessive disease mucopolysaccharidosis I
External Links
- Disease Ontology
- DOID:0111390
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35475 | Alpha-L-iduronidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001371 | Flexion contracture |
| HP:0001387 | Joint stiffness |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001488 | Bilateral ptosis |
| HP:0001537 | Umbilical hernia |
| HP:0001538 | Protuberant abdomen |
| HP:0001653 | Mitral regurgitation |
| HP:0001659 | Aortic regurgitation |
| HP:0002159 | Heparan sulfate excretion in urine |
| HP:0002180 | Neurodegeneration |
