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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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6Y288 | Beta-1,3-glucosyltransferase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8BHT6 | Beta-1,3-glucosyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000175 | Cleft palate |
| HP:0000204 | Cleft upper lip |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000238 | Hydrocephalus |
| HP:0000248 | Brachycephaly |
| HP:0000252 | Microcephaly |
| HP:0000276 | Long face |
| HP:0000311 | Round face |
| HP:0000316 | Hypertelorism |
| HP:0000343 | Long philtrum |
