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DO Term : Cornelia de Lange syndrome 1 [DOID:0080505] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
OMIM:122470,
122470

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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