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Arboleda-Tham Syndrome

Disease ID: disease_node_16495

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DbxrefMIM:616268, ORDO:457193
SubclassofDOID_0060307
Data SourceDOID
SynonymsARTHS, MRD32, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, autosomal dominant mental retardation 32, autosomal dominant non-syndromic intellectual disability 32
Doid LabelArboleda-Tham syndrome
Doid DescriptionAn autosomal domit intellectual developmental disorder that has_material_basis_in an autosomal domit mutation of the KAT6A gene on chromosome 8p11.21.
Disease Node Iddisease_node_16495
Doid IdDOID_0070062
LabelArboleda-Tham Syndrome