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Cornelia de Lange syndrome 2
Summary
- Definition
- A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.
- Super Class
- Cornelia de Lange syndrome X-linked dominant disease
External Links
- Disease Ontology
- DOID:0080506
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UQE7 | Structural maintenance of chromosomes protein 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000059 | Hypoplastic labia majora |
| HP:0000076 | Vesicoureteral reflux |
| HP:0000083 | Renal insufficiency |
| HP:0000130 | Abnormality of the uterus |
| HP:0000175 | Cleft palate |
| HP:0000218 | High palate |
| HP:0000233 | Thin vermilion border |
