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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Peters plus syndrome
Summary
- Synonym
-
- Krause-Kivlin syndrome
- Peters anomaly-short limb dwarfism syndrome
- Peters-plus syndrome
- Definition
- A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0080201
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 780006 | b3glct | beta 3-glucosyltransferase | Xenopus tropicalis (tropical clawed frog) | |
| 100127336 | b3glct.L | beta 3-glucosyltransferase L homeolog | Xenopus laevis (African clawed frog) | |
| 108709947 | b3glct.S | beta 3-glucosyltransferase S homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6Y288 | Beta-1,3-glucosyltransferase | |
| Q9Y2G5 | GDP-fucose protein O-fucosyltransferase 2 | |
| Q9Y5Z6 | Beta-1,3-galactosyltransferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002937 | Hemivertebrae |
| HP:0002996 | Limited elbow movement |
| HP:0003278 | Square pelvis bone |
| HP:0003561 | Birth length less than 3rd percentile |
| HP:0004279 | Short palm |
| HP:0004325 | Decreased body weight |
| HP:0005608 | Bilobate gallbladder |
| HP:0006887 | Intellectual disability, progressive |
| HP:0008726 | Hypoplasia of the vagina |
| HP:0009623 | Proximal placement of thumb |
