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Acrofacial Dysostosis

Disease ID: disease_node_15738

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SubclassofDOID_1934
Data SourceDOID
Doid Labelacrofacial dysostosis
Doid DescriptionA hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene.
Disease Node Iddisease_node_15738
Doid IdDOID_0060379
LabelAcrofacial Dysostosis