Coffin-Siris syndrome 3

Summary

DOID:0070045 - Coffin-Siris syndrome 3

Disease Ontology Definition:A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23.

Synonyms: CSS3, MRD15, autosomal dominant mental retardation 15,

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

: smarcb1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013820 - intellectual disability, autosomal dominant 15

MONDO:0013820 - intellectual disability, autosomal dominant 15

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)