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Cerebrooculofacioskeletal Syndrome 1

Disease ID: disease_node_20209

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DbxrefMIM:214150
SubclassofDOID_0080910
Data SourceDOID
Doid Labelcerebrooculofacioskeletal syndrome 1
Doid DescriptionA cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.
Disease Node Iddisease_node_20209
Doid IdDOID_0080911
LabelCerebrooculofacioskeletal Syndrome 1