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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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MIRAGE
developmental cardiac valvular defect
Summary
- Definition
- A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26.
- Super Class
- physical disorder
External Links
- Disease Ontology
- DOID:0080633
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11586 | C-1-tetrahydrofolate synthase, cytoplasmic | |
| Q13393 | Phospholipase D1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001634 | Mitral valve prolapse |
| HP:0004762 | Hypoplasia of right ventricle |
| HP:0000961 | Cyanosis |
| HP:0010446 | Tricuspid stenosis |
| HP:0001704 | Tricuspid valve prolapse |
