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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000501 | Glaucoma |
| HP:0000248 | Brachycephaly |
| HP:0000545 | Myopia |
| HP:0000347 | Micrognathia |
| HP:0000130 | Abnormality of the uterus |
| HP:0000470 | Short neck |
| HP:0000639 | Nystagmus |
| HP:0000400 | Macrotia |
| HP:0000218 | High palate |
| HP:0000486 | Strabismus |
