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Echinobase
Summary Literature (0)
DOID:0070042 - Coffin-Siris syndrome 1

Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ARID1B on chromosome 6q25.3.

Synonyms: CSS1, MRD12, autosomal dominant mental retardation 12, fifth digit syndrome,

Echinobase Genes :



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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant intellectual developmental disorder (is_a)