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Autosomal Recessive Intellectual Developmental Disorder 75

Disease ID: disease_node_16379

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DbxrefMIM:619827
SubclassofDOID_0060308
Data SourceDOID
Doid Labelautosomal recessive intellectual developmental disorder 75
Doid DescriptionAn autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15.
Disease Node Iddisease_node_16379
Doid IdDOID_0081234
LabelAutosomal Recessive Intellectual Developmental Disorder 75