FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term Cornelia de Lange syndrome 1 ID (Ontology) DOID:0080505 (Human Disease)
Definition A Cornelia de Lange syndrome characterized by facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, impaired intellectual development, and, in many cases, upper limb anomalies that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.
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Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 Cornelia de Lange syndrome 1       1      1
 for disease ribbon | Cornelia de Lange syndrome 1       1       --
 model of | Cornelia de Lange syndrome 1       1       --
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monogenic disease
 |__Cornelia de Lange syndrome__
autosomal genetic disease       |
 |__autosomal dominant disease__|
syndrome                        |
 |__Cornelia de Lange syndrome__|
                                Cornelia de Lange syndrome 1  2 rec.
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Is a autosomal dominant disease
Cornelia de Lange syndrome
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MIM:122470