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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Weissenbacher-Zweymuller syndrome
Summary
- Synonym
-
- Piere-Robin syndrome
- Pierre Robin Malformation
- Definition
- An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities.
- Super Class
- osteochondrodysplasia
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2998 | GYS2 | glycogen synthase 2 | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3956 | LGALS1 | galectin 1 | |
| 4047 | LSS | lanosterol synthase | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5067 | CNTN3 | contactin 3 | |
| 9382 | COG1 | component of oligomeric golgi complex 1 | |
| 9993 | DGCR2 | DiGeorge syndrome critical region gene 2 | |
| 56994 | CHPT1 | choline phosphotransferase 1 | |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P50443 | Sulfate transporter | |
| P54826 | Growth arrest-specific protein 1 | |
| P54840 | Glycogen [starch] synthase, liver | |
| P98153 | Integral membrane protein DGCR2/IDD | |
| Q5H8C1 | FRAS1-related extracellular matrix protein 1 | |
| Q8WTW3 | Conserved oligomeric Golgi complex subunit 1 | |
| Q9P232 | Contactin-3 |
