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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
LM-GlycoRepo
Repository for lectin-assisted multimodality data
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MIRAGE
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Summary
- Synonym
-
- ECHS1D
- Definition
- A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3.
- Super Class
- amino acid metabolic disorder autosomal recessive disease lipid metabolism disorder mitochondrial metabolism disease
External Links
- Disease Ontology
- DOID:0070540
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P30084 | Enoyl-CoA hydratase, mitochondrial |
