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Primary Autosomal Recessive Microcephaly 5

Disease ID: disease_node_19292

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DbxrefMIM:608716
SubclassofDOID_0070296
Data SourceDOID
SynonymsMCPH5
Doid Labelprimary autosomal recessive microcephaly 5
Doid DescriptionA primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.
Disease Node Iddisease_node_19292
Doid IdDOID_0070280
LabelPrimary Autosomal Recessive Microcephaly 5