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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 |
|---|---|---|
| P05091 | Aldehyde dehydrogenase, mitochondrial | |
| P08174 | Complement decay-accelerating factor | |
| P09382 | Galectin-1 | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P21589 | 5'-nucleotidase | |
| P27797 | Calreticulin | |
| P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 | |
| P35475 | Alpha-L-iduronidase | |
| P48449 | Lanosterol synthase |
