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DOID:0070062 - Arboleda-Tham syndrome
Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21.
Synonyms: MRD32, ARTHS, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, autosomal dominant mental retardation 32, autosomal dominant non-syndromic intellectual disability 32
Echinobase Genes
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Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee