Summary Literature (0)

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: ARTHS, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, autosomal dominant mental retardation 32, autosomal dominant non-syndromic intellectual disability 32, MRD32

Xenbase Genes : kat6a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014558 - autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

MIM:

MIM:616268 - ARBOLEDA-THAM SYNDROME; ARTHS

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

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