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Cornelia de Lange syndrome 1
Summary
- Definition
- A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.
- Super Class
- Cornelia de Lange syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0080505
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95271 | Poly [ADP-ribose] polymerase tankyrase-1 | |
| P51689 | Arylsulfatase D | |
| Q96FL9 | Polypeptide N-acetylgalactosaminyltransferase 14 | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000767 | Pectus excavatum |
| HP:0000776 | Congenital diaphragmatic hernia |
| HP:0000786 | Primary amenorrhea |
| HP:0000823 | Delayed puberty |
| HP:0000965 | Cutis marmorata |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001276 | Hypertonia |
| HP:0001385 | Hip dysplasia |
