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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:0000969 | Edema |
| HP:0001718 | Mitral stenosis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001653 | Mitral regurgitation |
| HP:0005180 | Tricuspid regurgitation |
| HP:0000072 | Hydroureter |
| HP:0011591 | Left aortic arch with cervical origin of the right subclavian artery |
| HP:0001629 | Ventricular septal defect |
| HP:0001789 | Hydrops fetalis |
| HP:0011662 | Tricuspid atresia |
