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Autosomal Recessive Intellectual Developmental Disorder 1

Disease ID: disease_node_16453

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DbxrefMIM:249500
SubclassofDOID_0060308
Data SourceDOID
Doid Labelautosomal recessive intellectual developmental disorder 1
Doid DescriptionAn autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25.
Disease Node Iddisease_node_16453
Doid IdDOID_0081177
LabelAutosomal Recessive Intellectual Developmental Disorder 1