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obsolete Matthew-Wood syndrome
Summary
- Definition
- A syndrome that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.
External Links
- Disease Ontology
- DOID:0050819
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5333 | PLCD1 | phospholipase C delta 1 | |
| 5337 | PLD1 | phospholipase D1 | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 5968 | REG1B | regenerating family member 1 beta | |
| 6382 | SDC1 | syndecan 1 | |
| 6383 | SDC2 | syndecan 2 | |
| 6480 | ST6GAL1 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein | |
| P04406 | Glyceraldehyde-3-phosphate dehydrogenase | |
| P06731 | Carcinoembryonic antigen-related cell adhesion molecule 5 | |
| P06733 | Alpha-enolase | |
| P06744 | Glucose-6-phosphate isomerase | |
| P07195 | L-lactate dehydrogenase B chain | |
| P07203 | Glutathione peroxidase 1 | |
| P07741 | Adenine phosphoribosyltransferase | |
| P09382 | Galectin-1 | |
| P09467 | Fructose-1,6-bisphosphatase 1 |
