Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
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:0002653 | Bone pain |
| HP:0000286 | Epicanthus |
| HP:0001659 | Aortic regurgitation |
| HP:0004322 | Short stature |
| HP:0001072 | Thickened skin |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000303 | Mandibular prognathia |
| HP:0000484 | Hyperopic astigmatism |
| HP:0000488 | Retinopathy |
