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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:0000368 | Low-set, posteriorly rotated ears |
| HP:0000574 | Thick eyebrow |
| HP:0000175 | Cleft palate |
| HP:0000482 | Microcornea |
| HP:0000059 | Hypoplastic labia majora |
| HP:0000413 | Atresia of the external auditory canal |
| HP:0000508 | Ptosis |
| HP:0000252 | Microcephaly |
| HP:0000028 | Cryptorchidism |
| HP:0000463 | Anteverted nares |
