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mucopolysaccharidosis Ih/s
Summary
- Synonym
-
- MPS1H/S
- MPSIH/S
- Mucopolysaccharidosis type 1H/S
- Definition
- A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction 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:0111389
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35475 | Alpha-L-iduronidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002240 | Hepatomegaly |
| HP:0100765 | Abnormality of the tonsils |
| HP:0001638 | Cardiomyopathy |
| HP:0004322 | Short stature |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0003416 | Spinal canal stenosis |
| HP:0007957 | Corneal opacity |
| HP:0001744 | Splenomegaly |
| HP:0000280 | Coarse facial features |
| HP:0003468 | Abnormal vertebral morphology |
