Coffin-Siris syndrome 1

Summary

DOID:0070042 - Coffin-Siris syndrome 1

Disease Ontology Definition:A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.

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

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

: arid1b

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013804 - obsolete intellectual disability, autosomal dominant 12

MONDO:0013804 - obsolete intellectual disability, autosomal dominant 12

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

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

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