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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:0002983 | Micromelia |
| HP:0003196 | Short nose |
| HP:0003298 | Spina bifida occulta |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004322 | Short stature |
| HP:0004383 | Hypoplastic left heart |
| HP:0004414 | Abnormality of the pulmonary artery |
| HP:0004467 | Preauricular pit |
| HP:0005182 | Bicuspid pulmonary valve |
| HP:0005280 | Depressed nasal bridge |
