FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Cornelia de Lange syndrome 5 ID (Ontology) DOID:0080509 (Human Disease)
Definition A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13.
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 Genes
 Cornelia de Lange syndrome 5       1
 for disease ribbon | Cornelia de Lange syndrome 5       1
 model of | Cornelia de Lange syndrome 5       1
Spanning Tree (Parents/Children)
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monogenic disease
 |__Cornelia de Lange syndrome__
X-linked monogenic disease      |
 |__X-linked dominant disease___|
syndrome                        |
 |__Cornelia de Lange syndrome__|
                                Cornelia de Lange syndrome 5  1 rec.
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Is a X-linked dominant disease
Cornelia de Lange syndrome
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MIM:300882