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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:0012471 | Thick vermilion border |
| HP:0000023 | Inguinal hernia |
| HP:0002159 | Heparan sulfate excretion in urine |
| HP:0001072 | Thickened skin |
| HP:0009697 | Contracture of the distal interphalangeal joint of the fingers |
| HP:0001653 | Mitral regurgitation |
| HP:0002777 | Tracheal stenosis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002205 | Recurrent respiratory infections |
| HP:0005280 | Depressed nasal bridge |
