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Human Disease

Cornelia de Lange syndrome 2

Term ID
DOID:0080506
Synonyms
Definition
A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. https://www.ncbi.nlm.nih.gov/pubmed/22106055
References
Ontology
Human Disease   ( DOID:0080506 )
Relationships
is a type of
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Genes Involved
Zebrafish Models