WormBase Tree Display for DO_term: DOID:0080505
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DOID:0080505 | Name | Cornelia de Lange syndrome 1 | |||
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Status | Valid | ||||
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. | ||||
Parent | Is_a | DOID:11725 | |||
DOID:0050736 | |||||
DB_info | Database | OMIM | disease | 122470 | |
Attribute_of | Gene_by_orthology | WBGene00004166 |