Search Ontology:
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 )
- is a type of
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Genes Involved
Zebrafish Models