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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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MIRAGE
spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Summary
- Synonym
-
- SPATCCM
- Definition
- An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0070537
- Mondo Disease Ontology
- UMLS
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P43007 | Neutral amino acid transporter A |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3UTP8 | Amino acid transporter |
