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Primary Autosomal Recessive Microcephaly 19

Disease ID: disease_node_19291

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DbxrefMIM:617800
SubclassofDOID_0070296
Data SourceDOID
SynonymsMCPH19
Doid Labelprimary autosomal recessive microcephaly 19
Doid DescriptionA primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23.
Disease Node Iddisease_node_19291
Doid IdDOID_0070281
LabelPrimary Autosomal Recessive Microcephaly 19