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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:0003577 | Congenital onset |
| HP:0001631 | Atrial septal defect |
| HP:0011623 | Muscular ventricular septal defect |
| HP:0000126 | Hydronephrosis |
| HP:0008722 | Urethral diverticulum |
| HP:0001655 | Patent foramen ovale |
| HP:0000023 | Inguinal hernia |
| HP:0004935 | Pulmonary artery atresia |
| HP:0001642 | Pulmonic stenosis |
| HP:0011555 | Double inlet left ventricle |
