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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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Repository for lectin-assisted multimodality data
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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 |
|---|---|---|---|
| 4758 | NEU1 | neuraminidase 1 | |
| 55283 | MCOLN3 | mucolipin TRP cation channel 3 | |
| 57192 | MCOLN1 | mucolipin TRP cation channel 1 | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000238 | Hydrocephalus |
| HP:0000256 | Macrocephaly |
| HP:0000348 | High forehead |
| HP:0000519 | Developmental cataract |
| HP:0000967 | Petechiae |
| HP:0000969 | Edema |
| HP:0001009 | Telangiectasia |
| HP:0001541 | Ascites |
| HP:0002376 | Developmental regression |
| HP:0003115 | Abnormal EKG |
