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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:0001956 | Truncal obesity |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002021 | Pyloric stenosis |
| HP:0002119 | Ventriculomegaly |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002162 | Low posterior hairline |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002230 | Generalized hirsutism |
| HP:0002360 | Sleep abnormality |
| HP:0002553 | Highly arched eyebrow |
