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Disease Ontology Browser
Arboleda-Tham syndrome (DOID:0070062)
Alliance: disease page
Synonyms: ARTHS; autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; autosomal dominant mental retardation 32; autosomal dominant non-syndromic intellectual disability 32; MRD32
Alt IDs: OMIM:616268, ORDO:457193
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory