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DO Term : Arboleda-Tham syndrome [DOID:0070062] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21.

synonyms:
616268,
ARTHS,
OMIM:616268,
MRD32,
autosomal dominant mental retardation 32,
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome,
autosomal dominant non-syndromic intellectual disability 32,
ORDO:457193

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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