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ZIRC
OBO ID: DOID:0080506
Term Name: Cornelia de Lange syndrome 2 Search Ontology:
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)
OTHER Cornelia de Lange syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMC1A Cornelia de Lange syndrome 2 300590
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None