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Autosomal Recessive Intellectual Developmental Disorder 58

Disease ID: disease_node_16393

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DbxrefMIM:617270
SubclassofDOID_0060308
Data SourceDOID
Doid Labelautosomal recessive intellectual developmental disorder 58
Doid DescriptionAn autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12.
Disease Node Iddisease_node_16393
Doid IdDOID_0081220
LabelAutosomal Recessive Intellectual Developmental Disorder 58