OBO ID: DOID:0080505 |
Term Name: | Cornelia de Lange syndrome 1 | Search Ontology: | |
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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. https://www.ncbi.nlm.nih.gov/pubmed/20583156 | ||
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Ontology: | Human Disease ( DOID:0080505 ) |
OTHER Cornelia de Lange syndrome 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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