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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: CSS1, MRD12, autosomal dominant mental retardation 12, fifth digit syndrome,
Xenbase Genes : arid1b
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):
Coffin-Siris syndrome (is_a),
autosomal dominant intellectual developmental disorder (is_a)