ZFIN Human Disease: Cornelia de Lange syndrome 2

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:	OMIM:300590
Ontology:	Human Disease ( DOID:0080506 )

Relationships

is a type of:	Cornelia de Lange syndrome X-linked dominant disease Cornelia de Lange syndrome X-linked dominant disease Show first 5 Terms

OTHER Cornelia de Lange syndrome 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SMC1A	smc1a smc1al	Cornelia de Lange syndrome 2	300590

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None