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DOID:0070044 - Coffin-Siris syndrome 2
Disease Ontology Definition:A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11.
Synonyms: autosomal dominant mental retardation 14, CSS2, MRD14
Echinobase Genes
| MIM:614607 - mental retardation, autosomal dominant 14; mrd14 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
autosomal dominant intellectual developmental disorder (is_a),
Coffin-Siris syndrome (is_a)