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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
- Mondo Disease Ontology
- OMIM
Related Genes
- 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 |
