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Autosomal Recessive Intellectual Developmental Disorder 18

Disease ID: disease_node_16423

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DbxrefMIM:614249
SubclassofDOID_0060308
Data SourceDOID
Doid Labelautosomal recessive intellectual developmental disorder 18
Doid DescriptionAn autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23.
Disease Node Iddisease_node_16423
Doid IdDOID_0081190
LabelAutosomal Recessive Intellectual Developmental Disorder 18