ZFIN Human Disease: Cornelia de Lange syndrome 1

OBO ID: DOID:0080505

Term Name:	Cornelia de Lange syndrome 1		Search Ontology:
Synonyms:
Definition:	A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. https://www.ncbi.nlm.nih.gov/pubmed/20583156
References:	OMIM:122470
Ontology:	Human Disease ( DOID:0080505 )

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 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NIPBL	nipblb nipbla	Cornelia de Lange syndrome 1	122470

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None