ZFIN Human Disease: Cornelia de Lange syndrome 4

OBO ID: DOID:0080508

Term Name:	Cornelia de Lange syndrome 4		Search Ontology:
Synonyms:	CDLS4 Cornelia De Lange syndrome 4 with or without midline brain defects
Definition:	A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24. https://www.ncbi.nlm.nih.gov/pubmed/22633399
References:	OMIM:614701
Ontology:	Human Disease ( DOID:0080508 )

Relationships

is a type of:	autosomal dominant disease Cornelia de Lange syndrome autosomal dominant disease Cornelia de Lange syndrome Show first 5 Terms

OTHER Cornelia de Lange syndrome 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RAD21	rad21a rad21b	Cornelia de Lange syndrome 4	614701

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None