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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:0000405 | Conductive hearing impairment |
| HP:0008897 | Postnatal growth retardation |
| HP:0001537 | Umbilical hernia |
| HP:0012185 | Constrictive median neuropathy |
| HP:0001653 | Mitral regurgitation |
| HP:0000943 | Dysostosis multiplex |
| HP:0002797 | Osteolysis |
| HP:0000212 | Gingival overgrowth |
| HP:0002355 | Difficulty walking |
| HP:0000403 | Recurrent otitis media |
