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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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GALAXY
MCAW
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Guidelines
MIRAGE
right atrial isomerism
Summary
- Synonym
-
- Ivemark syndrome
- asplenia with cardiovascular anomalies
- Definition
- A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12.
- Super Class
- autosomal recessive disease visceral heterotaxy
External Links
- Disease Ontology
- DOID:0060856
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P27040 | Activin receptor type-2B | |
| P97766 | Cryptic protein |
