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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 |
|---|---|---|---|
| 6713 | SQLE | squalene epoxidase | |
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 8050 | PDHX | pyruvate dehydrogenase complex component X | |
| 8473 | OGT | O-linked N-acetylglucosamine (GlcNAc) transferase | |
| 8505 | PARG | poly(ADP-ribose) glycohydrolase | |
| 8692 | HYAL2 | hyaluronidase 2 | |
| 9365 | KL | klotho | |
| 10232 | MSLN | mesothelin | |
| 10724 | OGA | O-GlcNAcase | |
| 23417 | MLYCD | malonyl-CoA decarboxylase |
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 |
