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Repository for lectin-assisted multimodality data
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MIRAGE
mucolipidosis III alpha/beta
Summary
- Synonym
-
- mucolipidosis III
- pseudo-Hurler polydystrophy
- Definition
- A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase.
- Super Class
- autosomal recessive disease mucolipidosis
External Links
- Disease Ontology
- DOID:0080071
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001609 | Hoarse voice |
| HP:0010471 | Oligosacchariduria |
| HP:0000470 | Short neck |
| HP:0002751 | Kyphoscoliosis |
| HP:0000293 | Full cheeks |
| HP:0001667 | Right ventricular hypertrophy |
| HP:0005280 | Depressed nasal bridge |
| HP:0001371 | Flexion contracture |
| HP:0000280 | Coarse facial features |
| HP:0002505 | Loss of ambulation |
