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GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
glycoproteinosis
Summary
- Synonym
-
- Mucolipidosis type I
- sialidosis
- Definition
- A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
- Super Class
- mucolipidosis
External Links
- Disease Ontology
- DOID:3343
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012061 | Urinary excretion of sialylated oligosaccharides |
| HP:0100022 | Abnormality of movement |
| HP:0100790 | Hernia |
| HP:0001789 | Hydrops fetalis |
| HP:0001347 | Hyperreflexia |
| HP:0004333 | Bone-marrow foam cells |
| HP:0001290 | Generalized hypotonia |
| HP:0001640 | Cardiomegaly |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000093 | Proteinuria |
