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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 |
|---|---|---|---|
| 5049 | PAFAH1B2 | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | |
| 5223 | PGAM1 | phosphoglycerate mutase 1 | |
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5230 | PGK1 | phosphoglycerate kinase 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5315 | PKM | pyruvate kinase M1/2 | |
| 5329 | PLAUR | plasminogen activator, urokinase receptor |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q92819 | Hyaluronan synthase 2 | |
| Q92835 | Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 | |
| Q96AD5 | Patatin-like phospholipase domain-containing protein 2 | |
| Q9NRA2 | Sialin | |
| Q9UEF7 | Klotho | |
| Q9Y286 | Sialic acid-binding Ig-like lectin 7 |
