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Cerebrooculofacioskeletal Syndrome

Disease ID: disease_node_20208

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DbxrefGARD:6027, MIM:PS214150
SubclassofDOID_2962
Data SourceDOID
Doid Labelcerebrooculofacioskeletal syndrome
Doid DescriptionA Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis.
Disease Node Iddisease_node_20208
Doid IdDOID_0080910
LabelCerebrooculofacioskeletal Syndrome