Coffin-Siris syndrome 4

Summary

DOID:0070046 - Coffin-Siris syndrome 4

Disease Ontology Definition:A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.

Synonyms: CSS4, MRD16, autosomal dominant mental retardation 16,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: smarca4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013821 - intellectual disability, autosomal dominant 16

MONDO:0013821 - intellectual disability, autosomal dominant 16

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Coffin-Siris syndrome (is_a), autosomal dominant intellectual developmental disorder (is_a)