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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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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
metachromatic leukodystrophy
Summary
- Synonym
-
- MLD
- Scholz cerebral sclerosis
- arylsulfatase A deficiency
- deficiency of cerebroside-sulfatase
- sulfatide lipoidosis
- Definition
- A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
- Super Class
- sphingolipidosis
External Links
- Disease Ontology
- DOID:10581
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07602 | Prosaposin | |
| P15289 | Arylsulfatase A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000648 | Optic atrophy |
| HP:0000712 | Emotional lability |
| HP:0000020 | Urinary incontinence |
| HP:0000649 | Abnormality of visual evoked potentials |
| HP:0000716 | Depression |
| HP:0000726 | Dementia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000738 | Hallucinations |
| HP:0000746 | Delusion |
| HP:0000762 | Decreased nerve conduction velocity |
