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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35475 | Alpha-L-iduronidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003468 | Abnormal vertebral morphology |
| HP:0004322 | Short stature |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0007957 | Corneal opacity |
| HP:0012384 | Rhinitis |
| HP:0100765 | Abnormality of the tonsils |
| HP:0100790 | Hernia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000347 | Micrognathia |
