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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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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 353 | APRT | adenine phosphoribosyltransferase | |
| 811 | CALR | calreticulin | |
| 1118 | CHIT1 | chitinase 1 | |
| 1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 | |
| 1717 | DHCR7 | 7-dehydrocholesterol reductase | |
| 1798 | DPAGT1 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | |
| 2519 | FUCA2 | alpha-L-fucosidase 2 | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2990 | GUSB | glucuronidase beta | |
| 3073 | HEXA | hexosaminidase subunit alpha |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UK23 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007957 | Corneal opacity |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0009891 | Underdeveloped supraorbital ridges |
| HP:0010306 | Short thorax |
| HP:0010442 | Polydactyly |
| HP:0010729 | Cherry red spot of the macula |
| HP:0010808 | Protruding tongue |
| HP:0010864 | Intellectual disability, severe |
| HP:0011276 | Vascular skin abnormality |
| HP:0011947 | Respiratory tract infection |
