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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:0000347 | Micrognathia |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000384 | Preauricular skin tag |
| HP:0000405 | Conductive hearing impairment |
| HP:0000463 | Anteverted nares |
| HP:0000465 | Webbed neck |
| HP:0000470 | Short neck |
| HP:0000482 | Microcornea |
| HP:0000501 | Glaucoma |
| HP:0000504 | Abnormality of vision |
